Affinage

KCNA1

Potassium voltage-gated channel subfamily A member 1 · UniProt Q09470

Length
495 aa
Mass
56.5 kDa
Annotated
2026-04-28
100 papers in source corpus 44 papers cited in narrative 44 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

KCNA1 encodes the voltage-gated potassium channel subunit Kv1.1, a delayed-rectifier that assembles into homo- and heterotetramers with other Shaker-family subunits (Kv1.2, Kv1.4) and accessory Kvβ subunits to dampen neuronal excitability, control action potential threshold and width, and ensure temporal precision of firing across sensory, motor, and autonomic circuits (PMID:8046438, PMID:12611922, PMID:14534254, PMID:28193892). Channel gating is tuned by palmitoylation at C243 (modulating voltage sensing), sialic acid glycosylation, Kvβ1 aldoketoreductase-dependent cofactor oxidation, PKA-driven membrane translocation, and mTOR/miR-129-mediated translational control of dendritic Kv1.1 mRNA (PMID:15837928, PMID:8702582, PMID:18222921, PMID:12681381, PMID:23836929). Loss-of-function mutations cause episodic ataxia type 1 with myokymia through dominant-negative or haploinsufficiency mechanisms, and certain mutations cause autosomal dominant hypomagnesemia by disrupting the membrane potential required for TRPM6-dependent Mg²⁺ reabsorption in the distal convoluted tubule (PMID:7842011, PMID:9526001, PMID:19307729). Neuron-specific Kv1.1 deficiency is sufficient to produce seizures and sudden unexpected death in epilepsy (SUDEP) through brain-driven cardiorespiratory dysregulation involving excessive parasympathetic outflow via the vagus nerve (PMID:20392939, PMID:31978607).

Mechanistic history

Synthesis pass · year-by-year structured walk · 24 steps
  1. 1994 High

    Establishing that KCNA1 is the disease gene for episodic ataxia type 1 linked loss-of-function K⁺ channel mutations to a defined human neurological disorder.

    Evidence Mutation analysis of KCNA1 coding region across EA1 families with heterologous expression confirming functional deficits

    PMID:7842011

    Open questions at the time
    • Precise mechanism of dominant-negative vs. haploinsufficiency for each mutation not yet resolved
    • No structural model explaining mutation-specific gating defects
  2. 1994 High

    Mapping Kv1.1 protein to synaptic terminals, juxtaparanodes, and dendrites defined the subcellular compartments where the channel regulates excitability.

    Evidence Isoform-specific immunocytochemistry in mouse brain

    PMID:8046438

    Open questions at the time
    • Relative contribution of each subcellular pool to specific physiological functions not determined
  3. 1994 High

    Demonstrating cotranslational assembly of Kv1.1 exclusively with other Shaker-family subunits established the rules governing channel heteromerization.

    Evidence Co-immunoprecipitation from in vitro translations and transfected cells; pulse-chase metabolic labeling; glycosylation site mutagenesis

    PMID:8126562

    Open questions at the time
    • Stoichiometry of heteromeric complexes in native tissue not determined
    • Assembly chaperone requirements unknown
  4. 1995 High

    Identifying arachidonic acid released by Ca²⁺-independent PLA2 as a modulator of Kv1.1 gating kinetics revealed a lipid-signaling regulatory axis.

    Evidence Intracellular PLA2 and exogenous arachidonic acid application with mechanism-based inhibitors; whole-cell patch clamp in Sf9 cells

    PMID:7852365

    Open questions at the time
    • Direct binding site on Kv1.1 for arachidonic acid not identified
    • In vivo relevance not established
  5. 1996 High

    Showing that sialic acid glycosylation modulates voltage dependence of activation by altering the local electric field linked post-translational glycan processing to channel biophysics.

    Evidence Expression in glycosylation-deficient CHO Lec mutant cells; sialidase treatment; electrophysiology

    PMID:8702582

    Open questions at the time
    • In vivo glycosylation heterogeneity at Kv1.1 not characterized
  6. 1998 High

    Systematic analysis of EA1 mutations separated two mechanistic classes—dominant-negative effects on heteromeric channels versus haploinsufficiency from protein instability—explaining clinical variability.

    Evidence TEA-tagging strategy in Xenopus oocytes to discriminate subunit contributions; Western blot quantification

    PMID:9526001

    Open questions at the time
    • Genotype-phenotype correlation across all known EA1 mutations incomplete
  7. 1998 High

    Kcna1-null mice revealed Kv1.1 as a regulator of pain processing, with knockout causing hyperalgesia and blunted morphine antinociception.

    Evidence Behavioral pain assays (paw flick, hot plate, formalin) in Kcna1-null vs. wild-type mice

    PMID:9718989

    Open questions at the time
    • Specific DRG neuron subtypes mediating Kv1.1-dependent nociception not identified at this time
  8. 2003 High

    Quantitative electrophysiology in Kcna1-null brainstem slices and in vivo recordings established that Kv1.1 supplies ~50% of low-threshold K⁺ current in auditory neurons and is essential for temporal precision of spike initiation.

    Evidence Patch clamp in MNTB slices from Kcna1-null mice; DTX pharmacology; in vivo single-unit recordings from VCN and MNTB

    PMID:12611922 PMID:14534254

    Open questions at the time
    • Identity of compensatory Kv1.2/Kv1.6 contribution quantified only indirectly via DTX sensitivity
  9. 2003 Medium

    PKA phosphorylation was shown to drive rapid Kv1.1 translocation to the plasma membrane, increasing current and altering voltage dependence, while PKC acted indirectly through protein synthesis.

    Evidence Patch clamp in stably transfected HEK293 cells with PKA/PKC activators; phosphorylation assays

    PMID:12681381

    Open questions at the time
    • Specific PKA phosphorylation site(s) not mapped in this study
    • In vivo confirmation of PKA-dependent trafficking lacking
  10. 2003 High

    The mceph mouse truncation and KCNE4 β-subunit studies revealed additional mechanisms of Kv1.1 suppression—dominant-negative sequestration of partner subunits and β-subunit-mediated current inhibition, respectively.

    Evidence Positional cloning with immunoblot showing reduced Kv1.2/Kv1.3 in mceph hippocampus; heterologous KCNE4 co-expression in oocytes and HEK293 cells

    PMID:12944270 PMID:14686897

    Open questions at the time
    • KCNE4-Kv1.1 stoichiometry and binding interface unknown
  11. 2005 High

    Identifying palmitoylation at C243 as a modulator of voltage sensing (20 mV shift in I-V curve) linked a reversible lipid modification to the biophysics of Kv1.1 gating.

    Evidence [³H]palmitate radiolabeling; C243 mutagenesis; whole-cell patch clamp in Sf9 cells

    PMID:15837928

    Open questions at the time
    • Palmitoyl acyltransferase responsible not identified
    • Dynamic regulation of palmitoylation state in neurons not characterized
  12. 2005 High

    Kv1.1 was placed in the afferent hypoxic chemosensory pathway: its deletion augmented carotid body discharge and excitatory transmission in NTS, linking Kv1.1 to respiratory control.

    Evidence Plethysmography; in vitro carotid body recordings; patch clamp of NTS neurons in Kcna1-null mice

    PMID:15800194

    Open questions at the time
    • Specific Kv1.1-containing heteromer subtypes in carotid body not identified
  13. 2006 High

    Discovery that mTOR suppresses dendritic Kv1.1 translation introduced activity-dependent local synthesis as a mechanism for regulating dendritic excitability independently of axonal Kv1.1.

    Evidence Photoconvertible Kaede-Kv1.1 reporter for local synthesis; rapamycin treatment; surface biotinylation in hippocampal neurons

    PMID:17023663

    Open questions at the time
    • Cis-regulatory elements in Kv1.1 mRNA mediating dendritic targeting not mapped
  14. 2008 High

    Demonstrating that Kvβ1 functions as an aldoketoreductase whose cofactor oxidation state controls Kv1.1 open-channel current linked cellular metabolic status to K⁺ channel conductance.

    Evidence In vitro enzymatic assay for Kvβ1; NADP⁺/H₂O₂ application during patch clamp; catalytic site mutagenesis

    PMID:18222921

    Open questions at the time
    • Physiological substrates of Kvβ1 reductase in neurons not identified
    • In vivo metabolic conditions that trigger redox switching unclear
  15. 2009 High

    A KCNA1 N255D mutation causing autosomal dominant hypomagnesemia established a renal role for Kv1.1, showing it sets the membrane potential required for TRPM6-mediated Mg²⁺ reabsorption in the distal convoluted tubule.

    Evidence Positional cloning; immunolocalization in kidney; patch clamp showing dominant-negative loss of function

    PMID:19307729

    Open questions at the time
    • Kv1.1 heteromer composition in DCT not determined
    • Mechanism by which membrane potential specifically couples to TRPM6 activity not fully resolved
  16. 2010 High

    Kcna1-null mice showed brain-driven cardiac arrhythmias reversed by atropine, identifying excessive parasympathetic outflow via Kv1.1-expressing vagus nerve juxtaparanodes as the mechanism linking Kv1.1 loss to cardiac dysfunction.

    Evidence Simultaneous video-EEG-ECG; selective autonomic blockade; vagus nerve immunohistochemistry

    PMID:20392939

    Open questions at the time
    • Whether cardiac arrhythmias are purely ictal or also interictal not fully resolved
    • Role of respiratory dysfunction in SUDEP mechanism not dissected
  17. 2011 Medium

    RNA editing at I400V in the S6 segment was found to generate 4-AP-insensitive Kv1.1 channels, with editing upregulated in chronic epilepsy, suggesting an endogenous compensatory response to hyperexcitability.

    Evidence RNA editing quantification in kainic acid epilepsy model; electrophysiology of I400V channels in Xenopus oocytes

    PMID:21371023

    Open questions at the time
    • ADAR enzyme responsible for I400V editing not identified
    • Functional impact of altered editing on seizure frequency not tested in vivo
  18. 2011 High

    V408A knock-in mice demonstrated that EA1 myokymia originates from spontaneous Ca²⁺ signals in motor nerve axons, independent of the neuromuscular junction, placing the pathogenic mechanism in the axon itself.

    Evidence In vivo nerve-muscle preparation; two-photon Ca²⁺ imaging; nerve axotomy experiments

    PMID:22609489

    Open questions at the time
    • Molecular basis of aberrant Ca²⁺ entry in V408A axons not determined
  19. 2013 High

    Kv1.1 was identified as a mechanosensitive brake in C-fiber high-threshold mechanoreceptors: Kv1.1 in Kv1.1-Kv1.2 heteromers opposes slow MS cation currents to set mechanical firing threshold.

    Evidence Toxin profiling; transgenic mouse studies; DRG neuron patch clamp; behavioral mechanical allodynia assays

    PMID:23473320

    Open questions at the time
    • Structural basis for mechanosensitivity of Kv1.1-containing heteromers unknown
  20. 2013 High

    Two competing translational regulators—miR-129 (repressor) and HuD (activator)—were shown to mediate mTOR-dependent control of dendritic Kv1.1 synthesis, refining the mechanism by which neuronal activity tunes local Kv1.1 levels.

    Evidence miRNA identification; HuD RNA-binding assays; polysome profiling; reporter assays in neurons

    PMID:23836929

    Open questions at the time
    • Whether miR-129 and HuD binding sites overlap or are distinct on Kv1.1 3′-UTR not mapped
  21. 2013 High

    Loss of Kv1.1 in hippocampus increased presynaptic neurotransmitter release at mossy fiber and perforant path terminals, linking presynaptic Kv1.1 to circuit-level timing and pathological oscillations.

    Evidence Multielectrode array recordings in Kcna1-null hippocampal slices; DTX-κ pharmacology

    PMID:23466697

    Open questions at the time
    • Whether increased release is purely due to spike broadening or also involves resting Ca²⁺ changes not resolved
  22. 2017 High

    Direct recording from small synaptic boutons showed that Kv1.1 controls basal presynaptic spike width, and that EA1 V408A heterozygosity abolishes analog modulation of spike width by somatic depolarization, revealing a novel disease mechanism.

    Evidence Scanning ion conductance microscopy of intact boutons; DTX-K; heterozygous V408A knock-in mice

    PMID:28193892

    Open questions at the time
    • Subunit stoichiometry of native presynaptic Kv1 channels disrupted by V408A not directly measured
  23. 2018 High

    LGI1 autoantibodies were shown to reduce synaptic Kv1.1 levels before AMPA receptors, establishing Kv1.1 displacement from the LGI1-ADAM22/23 complex as an early driver of autoimmune neuronal hyperexcitability.

    Evidence Patient IgG cerebroventricular transfer in mice; confocal quantification; patch clamp and LTP recordings

    PMID:30346486

    Open questions at the time
    • Mechanism of Kv1.1 removal from synaptic membrane (internalization vs. lateral diffusion) not determined
  24. 2020 High

    Neuron-specific conditional deletion proved that brain Kv1.1 loss—not cardiac-intrinsic deficiency—is sufficient for epilepsy and SUDEP-like cardiorespiratory failure, resolving the tissue origin of SUDEP risk.

    Evidence Floxed Kcna1 × Synapsin1-Cre conditional KO; EEG, ECG, plethysmography; survival analysis

    PMID:31978607

    Open questions at the time
    • Specific brain circuits (brainstem vs. cortical) driving fatal cardiorespiratory collapse not dissected
    • Whether cerebellar Kv1.1 retention modulates SUDEP threshold confirmed only indirectly

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include: the high-resolution structural basis for EA1 mutation-specific gating defects, the identity and regulation of the palmitoyl acyltransferase(s) and ADAR(s) acting on Kv1.1, the precise subunit stoichiometry of native Kv1.1-containing heteromers at defined synapses, and the specific brainstem circuits through which Kv1.1 loss drives fatal cardiorespiratory arrest.
  • No cryo-EM or X-ray structure of human Kv1.1 homomeric or heteromeric channel
  • Palmitoyl acyltransferase identity unknown
  • Circuit-level mechanism of SUDEP not resolved at cell-type specificity

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005215 transporter activity 8 GO:0140299 molecular sensor activity 1
Localization
GO:0005886 plasma membrane 5 GO:0005829 cytosol 2
Pathway
R-HSA-112316 Neuronal System 7 R-HSA-1643685 Disease 5 R-HSA-382551 Transport of small molecules 5 R-HSA-162582 Signal Transduction 3
Partners
ADAM22ADAM23KCNA2KCNA4KCNAB1KCNE4LGI1TRPM6
Complex memberships
Kv1.1-Kv1.2 heterotetramerKv1.1-Kv1.4 heterotetramerKv1.1/Kvβ1 complex

Evidence

Reading pass · 44 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1994 KCNA1 (Kv1.1) missense point mutations in heterozygous state cause episodic ataxia/myokymia syndrome, establishing KCNA1 as the disease gene for EA1 Mutation analysis of KCNA1 coding region in EA1 families; heterologous expression Nature genetics High 7842011
1994 Kv1.1 protein localizes to synaptic terminals, juxta-paranodal regions of myelinated axons, unmyelinated axons, cell somata, and proximal dendrites in mouse brain Immunocytochemistry/immunohistochemistry with isoform-specific antisera in mouse brain The Journal of neuroscience High 8046438
1994 Kv1.1 assembles cotranslationally with other Shaker-like subunits (e.g., Kv1.4) but not with non-Shaker subunits (Kv2.1); N207 glycosylation occurs but is not required for assembly, transport, or function; channel appears as 57–59 kDa doublet reflecting posttranslational processing Co-immunoprecipitation from in vitro translations and transfected cells; pulse-chase metabolic labeling; site-directed mutagenesis of glycosylation site; electrophysiology The Journal of neuroscience High 8126562
1995 Ca2+-independent phospholipase A2 modulates Kv1.1 channel kinetics through release of arachidonic acid, which accelerates both activation and induces inactivation of Kv1.1 currents Intracellular administration of PLA2 and exogenous arachidonic acid in Sf9 cells expressing Kv1.1; whole-cell patch clamp; mechanism-based PLA2 inhibitor controls The Journal of biological chemistry High 7852365
1996 Sialic acid addition to Kv1.1 modulates voltage dependence of activation by influencing the local electric field at the voltage sensor; sialidase treatment or elevated Ca2+ shifts activation to more positive voltages, mimicking effects seen in glycosylation-deficient cell lines Expression in Lec mutant CHO cells deficient in glycosylation; sialidase treatment; whole-cell patch clamp The Journal of biological chemistry High 8702582
1998 EA1 mutations in Kv1.1 impair channel function by two distinct mechanisms: dominant negative effects (most mutations form heteromeric channels with intermediate properties) or haploinsufficiency (R239S and F249I yield minimal protein and current) Heterologous expression in Xenopus oocytes; TEA-tagging to distinguish subunit contributions; Western blot for protein levels The Journal of neuroscience High 9526001
1998 Kv1.1 knockout mice exhibit hyperalgesia (reduced nociceptive thresholds in paw flick, hot plate, and formalin assays) and blunted morphine antinociception, establishing Kv1.1 as a regulator of nociceptive and antinociceptive signaling Behavioral pain assays in Kcna1-null mice (-/-) versus heterozygous (+/-) and wild-type (+/+) littermates Neuroscience letters High 9718989
1998 Kv1.1 mRNA is destabilized by cAMP elevation in C6 glioma cells, reducing Kv1.1 protein and outward K+ current, and thereby depolarizing resting membrane potential cAMP elevation by pharmacological agents; Northern blot for RNA decay; Western blot; whole-cell patch clamp; dendrotoxin-I pharmacology Proceedings of the National Academy of Sciences of the United States of America Medium 9636212
1999 EA1 mutations V408A and E325D in Kv1.1 co-assemble with Kv1.2 to form heteromeric channels with altered kinetics of activation, deactivation, C-type inactivation, and voltage dependence; V408A reduces mean single-channel open duration ~3-fold Tandemly linked subunits expressed in Xenopus oocytes; single-channel and macroscopic patch clamp analysis FASEB journal High 10428758
1999 Protein kinase C activation inhibits Kv1.1 current by a mechanism requiring a C3 exoenzyme substrate (Rho GTPase pathway) but does not alter channel gating kinetics or promote channel internalization; inhibition is not via direct phosphorylation of Kv1.1 PMA application in Xenopus oocytes; PKC inhibitors; site-directed mutagenesis of PKC sites; Western blot; botulinum toxin C3 injection The American journal of physiology Medium 10409113
2000 Four EA1 KCNA1 mutations impair delayed-rectifier K+ currents by different mechanisms: some alter gating properties, others cause truncation with dominant negative effects; phenotypic variability correlates with degree and nature of channel dysfunction Heterologous expression in Xenopus oocytes; electrophysiology; confocal microscopy of GFP-tagged subunits Annals of neurology High 11026449
2001 EA1 missense mutations generate Kv1.1 subunits with normal folding and trafficking, whereas the nonsense truncation mutation causes intracellular aggregation and detergent insolubility that can be transferred to co-assembled Kv1 α- and Kvβ-subunits Immunocytochemistry; detergent solubility assays; co-assembly studies in heterologous cells The Journal of biological chemistry Medium 11679591
2002 EA1 mutation R417stop (C-terminal truncation) impairs both tetramerization of Kv1.1 with wild-type subunits and membrane targeting of heterotetramers, while typical EA1 mutations (e.g., V404I, P244H) affect only channel kinetics without disrupting assembly or trafficking Co-expression in Xenopus oocytes; pharmacological discrimination of subunit contribution; confocal imaging of GFP-tagged subunits The Journal of physiology High 11773313
2002 EA1 mutations E325D and V408A destabilize the open state of Kv1.1, increasing deactivation rates ~10-fold, and alter Kvβ1-induced N-type inactivation: inactivation onset is ~2-fold slower and recovery is ~10-fold faster than wild-type Heterologous expression with Kvβ1 in Xenopus oocytes; macroscopic and gating current recording; comparison of homomeric and heteromeric channels The Journal of neuroscience High 12077175
2003 Kv1.1 subunits contribute approximately half the low-threshold IKL current in auditory MNTB neurons; absence of Kv1.1 (Kcna1-null) reduces IKL amplitude by ~50% and doubles neuronal excitability (more APs, halved threshold current); residual IKL is DTX-sensitive, suggesting Kv1.2/Kv1.6 compensation Whole-cell patch clamp in brainstem slices from Kcna1-null and wild-type mice; DTX pharmacology The Journal of physiology High 12611922
2003 Glycosylation at the S1-S2 linker affects Kv1.1 gating function but, unlike Kv1.4, does not influence protein stability or cell-surface expression; a pore-region determinant dictates differential glycosylation effects on trafficking between Kv1.1 and Kv1.4 N-glycosylation mutants; cell-surface biotinylation; immunocytochemistry; electrophysiology in transfected cells The Journal of biological chemistry High 14688283
2003 KCNA1 11-bp deletion (mceph mouse) produces a truncated Kv1.1 that retains only N-terminal assembly domains, sequesters Kv1.2 and Kv1.3 subunits, reduces their protein levels in hippocampus, and causes seizures and megalencephaly Positional cloning; immunoblot for Kv1.2 and Kv1.3; immunohistochemistry; EEG The European journal of neuroscience Medium 14686897
2005 Human Kv1.1 is palmitoylated at C243 in the S2-S3 cytosolic linker; preventing palmitoylation at C243 causes a 20-mV leftward shift in the current-voltage relationship, indicating palmitoylation modulates voltage sensing [3H]palmitate radiolabeling; chemical stability studies; site-directed mutagenesis; whole-cell patch clamp in Sf9 cells Proceedings of the National Academy of Sciences of the United States of America High 15837928
2003 Absence of Kv1.1 in Kcna1-null mice reduces temporal precision of auditory signaling: increased first-spike latency jitter in VCN bushy cells, calyceal terminals, and MNTB neurons in vivo, and reduced ability to follow high-frequency amplitude-modulated stimulation In vivo single-unit recordings from VCN and MNTB neurons in Kcna1-null vs. wild-type mice The Journal of neuroscience High 14534254
2006 mTOR activity suppresses Kv1.1 mRNA translation in dendrites; inhibition of mTOR (rapamycin) or NMDA receptors increases dendritic Kv1.1 protein and surface expression without altering axonal expression; endogenous Kv1.1 mRNA is present in dendrites Live imaging of Kaede-Kv1.1 reporter for local synthesis; rapamycin treatment; surface biotinylation; immunostaining in hippocampal neurons Science High 17023663
2006 Kv1.1-containing channels (identified by DTX-K) underlie IKL in MNTB neurons and are critical for temporal precision of action potential initiation; pharmacological or genetic reduction of Kv1.1 increases AP latency jitter, particularly during rapid stimulation (100-500 Hz) Pharmacology with DTX-K at selective concentrations; whole-cell patch clamp in Kcna1-/- mouse brain slices; comparison of genetic and pharmacological IKL reduction Journal of neurophysiology High 16672305
2006 EA1 mutations E325D, V404I, V408A, and I177N alter N-type inactivation and repriming properties of heteromeric Kv1.4-Kv1.1/Kvβ1.1 and Kv1.4-Kv1.1/Kvβ1.2 channels, decreasing inactivation rate and accelerating recovery from inactivation Tandemly linked subunits in Xenopus oocytes; two-electrode voltage clamp The European journal of neuroscience High 17156368
2003 PKA activation phosphorylates intracellular Kv1.1 protein and promotes its rapid translocation to the plasma membrane, increasing current amplitude and altering voltage dependence of activation; PKC activation does not directly phosphorylate Kv1.1 but induces Kv1.1 protein synthesis Patch clamp in stably transfected HEK293 cells; PKA/PKC activators; phosphorylation assays Neuropharmacology Medium 12681381
2008 Kvβ1 is a functional aldoketoreductase; oxidation of Kvβ1-bound NADPH cofactor (enzymatically or by H2O2/NADP+) induces a large increase in Kv1.1 open-channel current; the rate of cofactor oxidation is regulated by membrane potential (~2-fold faster at 0 mV vs. -100 mV), linking metabolic state to channel function In vitro aldoketoreductase assay for Kvβ1; electrophysiology with NADP+/H2O2 application; site-directed mutagenesis of catalytic site; whole-cell patch clamp The Journal of biological chemistry High 18222921
2009 A KCNA1 N255D mutation causes autosomal dominant hypomagnesemia; Kv1.1 is expressed in the distal convoluted tubule where it colocalizes with TRPM6 at the luminal membrane, and N255D produces a non-functional channel with dominant negative effect on wild-type Kv1.1, disrupting the membrane potential needed for TRPM6-mediated Mg2+ reabsorption Positional cloning; immunolocalization in kidney; patch clamp in human kidney cell line; overexpression studies The Journal of clinical investigation High 19307729
2009 Asparagine at position 255 in the S3 transmembrane segment of Kv1.1 is essential for normal voltage dependence and gating kinetics; charged or bulky substitutions (N255D, N255E, N255Q) abolish ion conduction while other substitutions shift activation to more negative potentials and alter kinetics Systematic mutagenesis at N255; cell surface biotinylation; whole-cell patch clamp in HEK293 cells The Journal of biological chemistry High 19903818
2010 Kv1.1 deficiency (Kcna1-null) causes brain-driven cardiac dysfunction including AV conduction blocks, bradycardia, and premature ventricular contractions; these arise from excessive parasympathetic tone (reversed by atropine but not propranolol); Kv1.1 is expressed in juxtaparanodes of the vagus nerve, suggesting it regulates parasympathetic outflow to the heart Simultaneous video EEG-ECG recordings; selective autonomic pharmacological blockade (atropine/propranolol); immunohistochemistry of vagus nerve; cardiac structural analysis The Journal of neuroscience High 20392939
2011 NRG1 acting through ErbB4 increases intrinsic excitability of fast-spiking parvalbumin interneurons by increasing near-threshold responsiveness and decreasing action potential voltage threshold through Kv1.1 Whole-cell patch clamp in ErbB4 conditional knockout mice; pharmacological manipulation of Kv1.1; seizure susceptibility models Nature neuroscience High 22158511
2013 mTOR-dependent regulation of Kv1.1 mRNA translation in dendrites involves two opposing mechanisms: when mTORC1 is active, miR-129 represses Kv1.1 mRNA translation; when mTORC1 is inhibited, degradation of high-affinity HuD target mRNAs frees HuD to bind and promote Kv1.1 mRNA translation miRNA identification; HuD RNA-binding protein binding assays; mTOR inhibition studies; polysome profiling; reporter assays in neurons The Journal of cell biology High 23836929
2013 Kv1.1 acts as a mechanosensitive brake in sensory neurons: mechanosensitivity is attributed to Kv1.1 subunits in Kv1.1-Kv1.2 heteromers through facilitation of voltage-dependent open probability; IKmech expression in C-HTMRs opposes slow MS cation currents, setting mechanical firing threshold; Kv1.1 dominant negative or inhibition causes mechanical allodynia without heat hyperalgesia Toxin profiling; transgenic mouse studies; patch clamp of DRG neurons; Kv1.1 dominant negative expression; behavioral assays Neuron High 23473320
2013 Loss of Kv1.1 in Kcna1-null hippocampus increases presynaptic neurotransmitter release at mossy fiber and perforant path terminals (reduced paired-pulse ratios, enhanced postsynaptic responses), which reduces spike timing reliability of CA3 principal cells and promotes pathological high-frequency oscillations Multielectrode array extracellular recordings; micro-dissection experiments; DTX-κ pharmacology in wild-type slices Neurobiology of disease High 23466697
2013 KCNA1 expression is induced by oncogenic stress, and Kv1.1 relocates from cytoplasm to plasma membrane upon loss of PKA-dependent phosphorylation at S446; membrane-localized Kv1.1 changes membrane potential and triggers cellular senescence; phosphomimetic S446 mutant maintains cytoplasmic localization and allows OIS escape Loss-of-function genetic screen; subcellular fractionation; mutagenesis of S446; membrane potential measurements; transformation assays Cancer research Medium 23774215
2003 KCNE4 β-subunit exerts a drastic inhibitory effect specifically on Kv1.1 and Kv1.3 homomeric currents and on Kv1.1/Kv1.2 and Kv1.2/Kv1.3 heteromeric currents but not on Kv1.2, Kv1.4, Kv1.5, or Kv4.3; Kv1.1 and KCNE4 colocalize at the cell surface Heterologous expression in Xenopus oocytes and HEK293 cells; electrophysiology; confocal microscopy; Western blot Biophysical journal High 12944270
2011 Kv1.1 (V408A/+) knock-in mice exhibit spontaneous myokymic discharges originating from motor nerve axons independent of neuromuscular junction; the V408A mutation causes abnormal spontaneous Ca2+ signals in motor nerve axons; fatigue, ischemia, and low temperature exacerbate myokymic activity In vivo nerve-muscle preparations; two-photon laser scanning microscopy of Ca2+ signals; nerve axotomy experiments; EMG recordings Neurobiology of disease High 22609489
2014 Following kainic-acid induced status epilepticus, Kv1.1 expression is suppressed in two phases: (1) initial mTOR-dependent suppression (reversed by rapamycin) followed by (2) persistent miR-129-5p-mediated translational repression independent of mTOR; reduced Kv1.1 in CA1 pyramidal neurons lowers action potential firing threshold Kainic acid TLE model; rapamycin treatment; miR-129-5p quantification; patch clamp recordings from CA1 neurons Neurobiology of disease High 25270294
2017 Pharmacological or genetic deletion of Kv1.1 broadens presynaptic spike width; an EA1 heterozygous dominant Kv1.1 mutation (V408A) similarly broadens basal presynaptic spike shape but, unlike deletion, abolishes spike width modulation by subthreshold somatic depolarization, suggesting disruption of normal presynaptic Kv1 channel stoichiometry Scanning ion conductance microscopy to record from intact small synaptic boutons; pharmacological Kv1.1 blockade; heterozygous Kv1.1 V408A knock-in mice Proceedings of the National Academy of Sciences of the United States of America High 28193892
2018 Patient-derived LGI1 antibodies disrupt LGI1 interaction with ADAM23 (presynaptic) and ADAM22 (postsynaptic), causing decreased synaptic Kv1.1 levels before AMPA receptor reduction, leading to neuronal hyperexcitability, increased presynaptic glutamate release, and impaired LTP Patient IgG cerebroventricular transfer in mice; confocal analysis of hippocampal slices; patch clamp of dentate gyrus and CA1 neurons; field potential LTP recordings Brain : a journal of neurology High 30346486
2020 Neuron-specific deletion of Kcna1 (using Synapsin1-Cre) is sufficient to cause epilepsy, premature death, and cardiorespiratory dysregulation, demonstrating that brain-driven (not cardiac-intrinsic) Kv1.1 deficiency underlies SUDEP risk; residual Kv1.1 in cerebellum (where Synapsin1-Cre is less active) may modulate ictal cardiorespiratory dysfunction Conditional knockout (floxed Kcna1 × Synapsin1-Cre); EEG, ECG, plethysmography; survival analysis; heart rate variability analysis Neurobiology of disease High 31978607
2011 RNA editing of Kv1.1 at position I400V (Ile→Val) in the S6 segment generates 4-aminopyridine-insensitive channels; editing ratio is increased ~4-fold in the entorhinal cortex of chronic epileptic rats, reducing ictogenic potential of 4-AP Sequencing of RNA editing in kainic acid model; electrophysiology of I400V channels in Xenopus oocytes Epilepsia Medium 21371023
2018 KCNA1 L319R mutation accelerates protein degradation via the proteasome pathway and disrupts Kv1.1 membrane expression; both L319R and N255K mutations reduce K+ currents with altered gating and dominant negative effect, causing familial paroxysmal kinesigenic dyskinesia Whole-exome sequencing; proteasome inhibitor experiments; patch clamp in HEK293 cells; dominant-negative co-expression Human molecular genetics Medium 29294000
2005 Kv1.1 deletion augments carotid body chemosensory discharge during hypoxia and increases frequency of spontaneous and miniature EPSCs in nucleus tractus solitarius neurons, demonstrating Kv1.1 regulates afferent hypoxic chemosensory pathway and respiratory control Plethysmography; in vitro carotid body sensory discharge recordings; whole-cell patch clamp of NTS neurons in brainstem slices; immunohistochemistry The Journal of neuroscience High 15800194
2007 Mu opioid receptor activation inhibits GABAergic inputs to basolateral amygdala neurons through presynaptic Kv1.1/1.2 channels; selective Kv1.1 blocker (DTX-K) abolishes DAMGO's inhibitory effect on mIPSCs; Kv1.1 and Kv1.2 colocalize with synaptophysin in BLA Whole-cell voltage clamp with selective toxin blockers (DTX-K for Kv1.1, tityustoxin-Kα for Kv1.2); double immunofluorescence with synaptophysin Journal of neurophysiology Medium 16306173
2007 Nitric oxide increases GABAergic mIPSC frequency to PVN presympathetic neurons through cGMP/PKG signaling acting downstream on presynaptic Kv1.1/1.2 channels; selective blockade of Kv1.1 (DTX-K) or Kv1.2 abolishes NO-induced potentiation of GABA release Whole-cell patch clamp in PVN brain slices; selective Kv channel blockers; 8-Br-cADPR controls; immunofluorescence for Kv1.1/Kv1.2 and synaptophysin Neuroscience Medium 17869444
2010 Kv1.1 and Kv1.3 channels contribute to RGC degeneration after optic nerve transection through different apoptotic pathways: Kv1.1 siRNA knockdown increases antiapoptotic Bcl-XL, while Kv1.3 siRNA reduces proapoptotic caspase-3, caspase-9, and Bad siRNA knockdown via intraocular injection with retrograde transport to RGCs; quantitative RT-PCR; immunohistochemistry; cell death counting Cell death and differentiation Medium 19696788

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1994 Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nature genetics 628 7842011
1994 Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain. The Journal of neuroscience : the official journal of the Society for Neuroscience 337 8046438
2006 Activity- and mTOR-dependent suppression of Kv1.1 channel mRNA translation in dendrites. Science (New York, N.Y.) 228 17023663
2000 Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Annals of neurology 191 11026449
2010 Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy. The Journal of neuroscience : the official journal of the Society for Neuroscience 184 20392939
2018 LGI1 antibodies alter Kv1.1 and AMPA receptors changing synaptic excitability, plasticity and memory. Brain : a journal of neurology 182 30346486
2009 Reduction of seizures by transplantation of cortical GABAergic interneuron precursors into Kv1.1 mutant mice. Proceedings of the National Academy of Sciences of the United States of America 177 19706400
2011 Neuregulin 1 regulates excitability of fast-spiking neurons through Kv1.1 and acts in epilepsy. Nature neuroscience 152 22158511
2003 Hyperexcitability and reduced low threshold potassium currents in auditory neurons of mice lacking the channel subunit Kv1.1. The Journal of physiology 119 12611922
2013 Kv1.1 channels act as mechanical brake in the senses of touch and pain. Neuron 110 23473320
2009 A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. The Journal of clinical investigation 110 19307729
1994 The brain Kv1.1 potassium channel: in vitro and in vivo studies on subunit assembly and posttranslational processing. The Journal of neuroscience : the official journal of the Society for Neuroscience 108 8126562
2013 Degradation of high affinity HuD targets releases Kv1.1 mRNA from miR-129 repression by mTORC1. The Journal of cell biology 98 23836929
2002 Potassium channels Kv1.1, Kv1.2 and Kv1.6 influence excitability of rat visceral sensory neurons. The Journal of physiology 98 12042352
2003 Glycosylation affects the protein stability and cell surface expression of Kv1.4 but Not Kv1.1 potassium channels. A pore region determinant dictates the effect of glycosylation on trafficking. The Journal of biological chemistry 94 14688283
2003 Decreased temporal precision of auditory signaling in Kcna1-null mice: an electrophysiological study in vivo. The Journal of neuroscience : the official journal of the Society for Neuroscience 93 14534254
2012 Kv1.1 and Kv1.2: similar channels, different seizure models. Epilepsia 92 22612818
2010 Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. Brain : a journal of neurology 79 21106501
2000 KV1.1 K(+) channels identification in human breast carcinoma cells: involvement in cell proliferation. Biochemical and biophysical research communications 79 11097830
1998 Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. The Journal of neuroscience : the official journal of the Society for Neuroscience 79 9526001
1999 Developmental seizure susceptibility of kv1.1 potassium channel knockout mice. Developmental neuroscience 78 10575255
2016 Orexin Receptor Antagonism Improves Sleep and Reduces Seizures in Kcna1-null Mice. Sleep 74 26446112
2004 Activity-dependent regulation of the potassium channel subunits Kv1.1 and Kv3.1. The Journal of comparative neurology 74 14755528
2020 Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches. International journal of molecular sciences 73 32331416
1996 Expression of Kv1.1 delayed rectifier potassium channels in Lec mutant Chinese hamster ovary cell lines reveals a role for sialidation in channel function. The Journal of biological chemistry 73 8702582
2020 Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity. International journal of molecular sciences 68 32316562
2006 Kv1.1-containing channels are critical for temporal precision during spike initiation. Journal of neurophysiology 67 16672305
1999 Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 65 10428758
2003 KCNE4 is an inhibitory subunit to Kv1.1 and Kv1.3 potassium channels. Biophysical journal 64 12944270
2013 Loss of the Kv1.1 potassium channel promotes pathologic sharp waves and high frequency oscillations in in vitro hippocampal slices. Neurobiology of disease 61 23466697
2007 Manipulation of the potassium channel Kv1.1 and its effect on neuronal excitability in rat sensory neurons. Journal of neurophysiology 58 17855588
2005 The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence. Proceedings of the National Academy of Sciences of the United States of America 58 15837928
2007 Structural consequences of Kcna1 gene deletion and transfer in the mouse hippocampus. Epilepsia 57 17651419
2001 Functional and molecular expression of a voltage-dependent K(+) channel (Kv1.1) in interstitial cells of Cajal. The Journal of physiology 55 11389194
2001 Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties. The Journal of biological chemistry 54 11679591
2010 Kv1.1 and Kv1.3 channels contribute to the degeneration of retinal ganglion cells after optic nerve transection in vivo. Cell death and differentiation 52 19696788
2008 Functional coupling between the Kv1.1 channel and aldoketoreductase Kvbeta1. The Journal of biological chemistry 52 18222921
2002 Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1. The Journal of physiology 51 11773313
2008 Different residues in channel turret determining the selectivity of ADWX-1 inhibitor peptide between Kv1.1 and Kv1.3 channels. Journal of proteome research 50 18937510
2006 Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2. The European journal of neuroscience 50 17156368
1998 Three novel KCNA1 mutations in episodic ataxia type I families. Human genetics 50 9600245
2016 Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease. Pharmacology & therapeutics 49 26825872
2005 Mu opioid receptor activation inhibits GABAergic inputs to basolateral amygdala neurons through Kv1.1/1.2 channels. Journal of neurophysiology 49 16306173
1998 Hyperalgesia in mice lacking the Kv1.1 potassium channel gene. Neuroscience letters 49 9718989
1995 Concomitant acceleration of the activation and inactivation kinetics of the human delayed rectifier K+ channel (Kv1.1) by Ca(2+)-independent phospholipase A2. The Journal of biological chemistry 49 7852365
2018 Respiratory dysfunction progresses with age in Kcna1-null mice, a model of sudden unexpected death in epilepsy. Epilepsia 48 29327348
2003 Truncation of the Shaker-like voltage-gated potassium channel, Kv1.1, causes megencephaly. The European journal of neuroscience 48 14686897
1999 Protein kinase C inhibits Kv1.1 potassium channel function. The American journal of physiology 48 10409113
2008 In the ventral cochlear nucleus Kv1.1 and subunits of HCN1 are colocalized at surfaces of neurons that have low-voltage-activated and hyperpolarization-activated conductances. Neuroscience 47 18424000
2007 A cysteine-rich receptor-like kinase NCRK and a pathogen-induced protein kinase RBK1 are Rop GTPase interactors. The Plant journal : for cell and molecular biology 47 18088316
1998 Expression of Kv1.1, a Shaker-like potassium channel, is temporally regulated in embryonic neurons and glia. The Journal of neuroscience : the official journal of the Society for Neuroscience 47 9671659
2018 Functional role of Kv1.1 and Kv1.3 channels in the neoplastic progression steps of three cancer cell lines, elucidated by scorpion peptides. International journal of biological macromolecules 45 29415410
1998 Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel. FEBS letters 45 9714564
2020 Neuron-specific Kv1.1 deficiency is sufficient to cause epilepsy, premature death, and cardiorespiratory dysregulation. Neurobiology of disease 44 31978607
2017 Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP). Human molecular genetics 43 28334922
2013 Potassium channel KCNA1 modulates oncogene-induced senescence and transformation. Cancer research 43 23774215
2015 Variability of Potassium Channel Blockers in Mesobuthus eupeus Scorpion Venom with Focus on Kv1.1: AN INTEGRATED TRANSCRIPTOMIC AND PROTEOMIC STUDY. The Journal of biological chemistry 41 25792741
2009 A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction. Movement disorders : official journal of the Movement Disorder Society 41 19205071
2018 Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene. Human molecular genetics 39 29294000
2015 Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. Frontiers in physiology 39 25642194
2014 Rapamycin reveals an mTOR-independent repression of Kv1.1 expression during epileptogenesis. Neurobiology of disease 39 25270294
2013 Regulation of action potential delays via voltage-gated potassium Kv1.1 channels in dentate granule cells during hippocampal epilepsy. Frontiers in cellular neuroscience 38 24367293
2003 Kv1.1 and Kv1.3 channels contribute to the delayed-rectifying K+ conductance in rat choroid plexus epithelial cells. American journal of physiology. Cell physiology 38 14602579
1995 Identification of Kv1.1 expression by murine CD4-CD8- thymocytes. A role for voltage-dependent K+ channels in murine thymocyte development. The Journal of biological chemistry 37 7673227
2011 RNA editing of Kv1.1 channels may account for reduced ictogenic potential of 4-aminopyridine in chronic epileptic rats. Epilepsia 36 21371023
2008 A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. Neuroscience 36 18926884
2005 Kv1.1 deletion augments the afferent hypoxic chemosensory pathway and respiration. The Journal of neuroscience : the official journal of the Society for Neuroscience 36 15800194
1994 Genomic organization, nucleotide sequence, biophysical properties, and localization of the voltage-gated K+ channel gene KCNA4/Kv1.4 to mouse chromosome 2/human 11p14 and mapping of KCNC1/Kv3.1 to mouse 7/human 11p14.3-p15.2 and KCNA1/Kv1.1 to human 12p13. Genomics 36 8020965
2019 Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia. Journal of medical genetics 35 31586945
2015 Expression and function of Kv1.1 potassium channels in human atria from patients with atrial fibrillation. Basic research in cardiology 34 26162324
2007 Kv1.1/1.2 channels are downstream effectors of nitric oxide on synaptic GABA release to preautonomic neurons in the paraventricular nucleus. Neuroscience 34 17869444
2003 Hyperexcitability of CA3 pyramidal cells in mice lacking the potassium channel subunit Kv1.1. Epilepsia 34 14636320
2018 mTOR-dependent alterations of Kv1.1 subunit expression in the neuronal subset-specific Pten knockout mouse model of cortical dysplasia with epilepsy. Scientific reports 32 29476105
2009 Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia. The Journal of biological chemistry 32 19903818
2004 A novel mutation in KCNA1 causes episodic ataxia without myokymia. Human mutation 32 15532032
2020 Progressive cardiorespiratory dysfunction in Kv1.1 knockout mice may provide temporal biomarkers of pending sudden unexpected death in epilepsy (SUDEP): The contribution of orexin. Epilepsia 30 32030748
2018 De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants. American journal of medical genetics. Part A 30 30055040
2006 Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics 30 17136396
1998 Cyclic AMP regulates potassium channel expression in C6 glioma by destabilizing Kv1.1 mRNA. Proceedings of the National Academy of Sciences of the United States of America 30 9636212
2012 Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature. Neurobiology of disease 29 22609489
2007 Disruption of Kv1.1 N-type inactivation by novel small molecule inhibitors (disinactivators). Bioorganic & medicinal chemistry 29 18226531
1992 Identification of RBK1 potassium channels in C6 astrocytoma cells. Glia 29 1533613
2011 Low-voltage activated Kv1.1 subunits are crucial for the processing of sound source location in the lateral superior olive in mice. The Journal of physiology 28 21224222
2011 Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures. Brain research 28 22206926
2008 Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea. Muscle & nerve 28 17912752
2002 Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation. The Journal of neuroscience : the official journal of the Society for Neuroscience 28 12077175
2015 Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics 26 26395884
2006 Block of neural Kv1.1 potassium channels for neuroinflammatory disease therapy. Annals of neurology 26 17044011
2003 Analysis of phosphorylation-dependent modulation of Kv1.1 potassium channels. Neuropharmacology 26 12681381
1995 Inactivation of the cloned potassium channel mouse Kv1.1 by the human Kv3.4 'ball' peptide and its chemical modification. The Journal of physiology 26 7602512
2019 Silencing of KCNA1 suppresses the cervical cancer development via mitochondria damage. Channels (Austin, Tex.) 25 31354026
2008 Kv1.1 expression in microglia regulates production and release of proinflammatory cytokines, endothelins and nitric oxide. Neuroscience 25 19118603
2006 Involvement of Kv1.1 and Nav1.5 in proliferation of gastric epithelial cells. Journal of cellular physiology 25 16331678
2006 Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1. American journal of physiology. Cell physiology 25 16956965
2003 Expression of the Kv1.1 ion channel subunit in the auditory brainstem of the big brown bat, Eptesicus fuscus. The Journal of comparative neurology 25 12761827
2012 Kcna1 gene deletion lowers the behavioral sensitivity of mice to small changes in sound location and increases asynchronous brainstem auditory evoked potentials but does not affect hearing thresholds. The Journal of neuroscience : the official journal of the Society for Neuroscience 24 22396426
2017 Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization. Proceedings of the National Academy of Sciences of the United States of America 23 28193892
2017 A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions. Molecular and cellular neurosciences 23 28666963
2016 A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. Neurogenetics 23 27271339
2007 KCNA1 and TRPC6 ion channels and NHE1 exchanger operate the biological outcome of HGF/scatter factor in renal tubular cells. Growth factors (Chur, Switzerland) 23 18365869