Affinage

SGCE

Epsilon-sarcoglycan · UniProt O43556

Length
437 aa
Mass
49.9 kDa
Annotated
2026-06-10
76 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ε-Sarcoglycan (SGCE) is a maternally imprinted, paternally expressed transmembrane sarcoglycan whose loss disrupts neuronal excitability and synaptic function, and whose mutation causes myoclonus-dystonia (DYT11) (PMID:12634861, PMID:31868164). The maternal allele is silenced by promoter methylation in blood and brain, so disease arises from paternally inherited loss-of-function alleles (PMID:12634861), an imprinting pattern faithfully maintained in patient iPSC-derived neurons that express a brain-specific exon-11b isoform most abundant in cerebellum (PMID:27890709, PMID:28155872). Disease-associated missense mutations cause intracellular retention, block trafficking to the plasma membrane, and trigger polyubiquitination and proteasomal degradation of the misfolded protein, with torsinA (the DYT1 dystonia protein) binding and promoting degradation of these mutants; other mutations reduce surface expression through exon skipping (PMID:17200151, PMID:36161439). Functionally, ε-sarcoglycan acts within the cerebellum where its acute loss is sufficient to produce ethanol-responsive dystonia and myoclonus, and where Purkinje cell firing and intrinsic excitability are altered in a sex-dependent manner (PMID:31868164, PMID:40557327). In the striatum, loss selectively impairs corticostriatal long-term depression in a manner rescuable by adenosine A2A receptor blockade, and reduces dopamine D2 receptor levels while increasing amphetamine-evoked dopamine release (PMID:28823931, PMID:22438980). Across human neuronal models, SGCE loss disrupts excitatory-inhibitory balance—producing hyperexcitable cortical glutamatergic neurons with altered synaptic adhesion molecules (higher neurexin-1, lower neuroligin-4) but hypoactive GABAergic and striatal neurons with reduced synaptic density (PMID:36204995, PMID:33808167, PMID:40711998). In cancer cells SGCE has separable roles, acting as a scaffold that blocks EGFR–c-Cbl interaction to stabilize EGFR and interacting with Sp1 to drive nuclear transcription of FGF-BP1 (PMID:32714745, PMID:37838174).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2003 High

    Established the genetic basis for parent-of-origin inheritance in DYT11 by showing SGCE is maternally imprinted, explaining why only paternally inherited mutations cause disease.

    Evidence Bisulfite sequencing and RT-PCR in UPD7 lymphoblastoid lines across blood and brain

    PMID:12634861

    Open questions at the time
    • Does not identify the imprinting control mechanism or trans-acting factors
    • Does not link imprinting to a specific cellular function of the protein
  2. 2007 High

    Defined the molecular consequence of disease missense mutations—misfolding, ER retention, and proteasomal degradation—and connected SGCE to torsinA, a second dystonia protein.

    Evidence Trafficking, co-IP, ubiquitination, and proteasome inhibition assays in cultured cells

    PMID:17200151

    Open questions at the time
    • Does not establish the normal surface function of wild-type ε-sarcoglycan
    • torsinA interaction tested only with mutants, not normal turnover
  3. 2010 Medium

    Linked ε-sarcoglycan loss to striatal dopamine homeostasis, implicating D2 receptor regulation and dopamine release as candidate disease mechanisms.

    Evidence Western blot and in vivo microdialysis in Sgce KO mice

    PMID:22438980

    Open questions at the time
    • Mechanism by which ε-SG regulates D2R levels unknown
    • Does not connect dopamine changes to motor phenotype
  4. 2010 Medium

    Tested whether the two dystonia genes act in a shared pathway, finding a genetic interaction but evidence for independent contributions to motor deficits.

    Evidence Dyt1/Sgce double-mutant mice with beam-walking and Western blot

    PMID:20627944

    Open questions at the time
    • Does not resolve whether the interaction is direct or convergent
    • Mechanism of earlier onset not defined
  5. 2011 Medium

    Localized a motor-learning requirement for ε-sarcoglycan to cerebellar Purkinje cells and revealed nuclear envelope abnormalities there.

    Evidence Purkinje cell-specific conditional Sgce KO, beam-walking, and TEM

    PMID:22040906

    Open questions at the time
    • Functional significance of nuclear envelope defect unclear
    • Does not link Purkinje phenotype to myoclonus or dystonia
  6. 2016 High

    Identified a defined synaptic plasticity defect—impaired corticostriatal LTD—with a pharmacological rescue point at the adenosine A2A receptor.

    Evidence Striatal slice electrophysiology with A2AR inhibition plus RNAseq in Sgce mutant mice

    PMID:28823931

    Open questions at the time
    • Molecular link between ε-SG and A2AR signaling unknown
    • LTD defect not yet tied to behavioral output
  7. 2016 Medium

    Demonstrated that ε-sarcoglycan forms complexes with other sarcoglycans in brain and identified a cerebellum-enriched brain-specific isoform.

    Evidence Immunoaffinity purification–mass spectrometry and isoform analysis in mouse brain

    PMID:27890709

    Open questions at the time
    • Functional role of the brain sarcoglycan complex not defined
    • Identity of all complex members and stoichiometry incomplete
  8. 2017 Medium

    Confirmed in human patient iPSC-neurons that SGCE imprinting is tissue-independent and that mutant protein levels are reduced, validating the model in human cells.

    Evidence Methylation PCR, isoform RT-PCR, and Western blot in patient iPSC-derived neurons

    PMID:28155872

    Open questions at the time
    • Does not assess neuronal physiology or function
    • Two mutation lines only
  9. 2019 High

    Showed that cerebellar loss of ε-sarcoglycan alone is sufficient to produce the core, ethanol-responsive DYT11 motor phenotype, establishing the cerebellum as a primary disease locus.

    Evidence Region-specific shRNA knockdown in adult mouse cerebellum versus basal ganglia with behavioral and ethanol testing

    PMID:31868164

    Open questions at the time
    • Cellular circuit producing aberrant activity not fully mapped
    • Mechanism of ethanol responsiveness unknown
  10. 2021 Medium

    Characterized striatal MSN dysfunction in human cells, revealing altered calcium signaling and reduced GABAergic synaptic density upon SGCE loss.

    Evidence Calcium imaging, patch-clamp, and immunofluorescence in patient iPSC-derived MSNs

    PMID:33808167

    Open questions at the time
    • Causal link between Ca2+ alterations and synaptic loss unclear
    • Single-lab patient lines
  11. 2022 Medium

    Extended the trafficking-defect model to additional mutation classes, showing both missense and splice mutations reduce surface ε-sarcoglycan.

    Evidence HiBiT membrane-expression and minigene splicing assays

    PMID:36161439

    Open questions at the time
    • Does not assess downstream neuronal consequences
    • Splicing outcomes inferred from minigene, not patient tissue
  12. 2023 High

    Demonstrated that SGCE-mutant human cortical glutamatergic neurons are hyperexcitable with altered synaptic adhesion molecule expression, defining a cell-autonomous excitatory phenotype.

    Evidence Ca2+ imaging, MEA, patch-clamp, RNAseq, and morphology in isogenic-controlled iPSC/ESC cortical neurons

    PMID:36204995

    Open questions at the time
    • Mechanism linking ε-SG loss to neurexin-1/neuroligin-4 changes unknown
    • Does not address inhibitory neuron behavior
  13. 2023 Medium

    Revealed a nuclear, transcriptional oncogenic role in which SGCE partners with Sp1 to drive FGF-BP1 expression and cancer stemness.

    Evidence Co-IP with Sp1, nuclear translocation, and promoter transcription assays in cancer cells

    PMID:37838174

    Open questions at the time
    • How a transmembrane protein reaches the nucleus is unexplained
    • Relationship to neuronal function unknown
  14. 2025 Medium

    Showed Purkinje cell firing and intrinsic excitability are altered in Sgce KO mice with a sex difference that correlates with disease severity.

    Evidence Ex vivo cerebellar slice electrophysiology comparing sexes in Sgce KO mice

    PMID:40557327

    Open questions at the time
    • Molecular basis of sex difference not defined
    • Single physiological readout
  15. 2026 High

    Completed the excitatory-inhibitory picture by showing SGCE-mutant inhibitory GABAergic neurons are hypoactive, contrasting with hyperexcitable glutamatergic neurons.

    Evidence scRNA-seq, Ca2+ imaging, MEA, patch-clamp, and morphology in isogenic-controlled iPSC/ESC GABAergic neurons

    PMID:40711998

    Open questions at the time
    • Mechanism producing opposite phenotypes across neuron types unknown
    • Network-level consequence of imbalance not directly measured

Open questions

Synthesis pass · forward-looking unresolved questions
  • The normal biochemical function of plasma-membrane ε-sarcoglycan and how its loss mechanistically produces opposite excitability changes in distinct neuron classes remain undefined.
  • No defined molecular activity for wild-type membrane ε-sarcoglycan
  • Mechanism connecting sarcoglycan complex to neuronal excitability unknown
  • Reconciliation of neuronal versus cancer-nuclear roles unresolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098631 cell adhesion mediator activity 2 GO:0060090 molecular adaptor activity 1
Localization
GO:0005886 plasma membrane 2 GO:0005634 nucleus 1 GO:0005635 nuclear envelope 1
Pathway
R-HSA-112316 Neuronal System 4 R-HSA-392499 Metabolism of proteins 2
Partners
CBLEGFRSP1TOR1A
Complex memberships
sarcoglycan complex

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2003 The maternal allele of SGCE is methylated while the paternal allele is unmethylated in peripheral blood leukocytes and brain tissue, establishing maternal imprinting of SGCE. Expression from the maternal allele is silenced (weak RT-PCR signal in matUPD7 vs. strong signal in patUPD7 cell lines), confirming that only the paternal allele is expressed. Bisulfite genomic sequencing of CpG dinucleotides in the promoter/first exon; RT-PCR in uniparental disomy 7 (UPD7) lymphoblastoid cell lines European journal of human genetics : EJHG High 12634861
2007 MDS-associated SGCE missense mutations (H36P, H36R, L172R) cause intracellular retention of ε-sarcoglycan and prevent trafficking to the plasma membrane. The mutant proteins become polyubiquitinated and are rapidly degraded by the proteasome. TorsinA (mutated in DYT1 dystonia) binds to and promotes degradation of misfolded ε-sarcoglycan mutants when co-expressed. Biosynthesis and trafficking assays in cultured cells; cell-surface expression analysis; co-immunoprecipitation of torsinA with ε-sarcoglycan mutants; proteasome inhibitor experiments; polyubiquitination assays Human molecular genetics High 17200151
2010 Loss of ε-sarcoglycan (Sgce KO mice) results in significantly decreased striatal dopamine D2 receptor (D2R) protein levels without altering dopamine transporter (DAT) or D1 receptor levels, and leads to increased dopamine release after amphetamine injection, suggesting ε-SG plays a role in regulating D2R expression and striatal dopamine homeostasis. Western blot for D2R, DAT, D1R in striatum of Sgce KO mice; in vivo microdialysis measuring dopamine release after amphetamine injection PloS one Medium 22438980
2011 ε-Sarcoglycan is required in cerebellar Purkinje cells for motor learning; Purkinje cell-specific Sgce conditional knockout (Sgce pKO) mice show motor learning deficits. Additionally, Sgce KO mice show abnormal nuclear envelope morphology in cerebellar Purkinje cells detected by transmission electron microscopy. Cerebellar Purkinje cell-specific conditional Sgce knockout mice; beam-walking behavioral tests; transmission electron microscopy of nuclear envelope Behavioural brain research Medium 22040906
2010 Mice carrying mutations in both Dyt1 (torsinA) and Sgce (ε-sarcoglycan) show earlier onset of motor deficits compared to single mutants, suggesting genetic interaction between these two dystonia genes. Western blot analysis suggested that functional deficits of torsinA and ε-sarcoglycan may independently cause motor deficits rather than acting in a shared pathway. Double mutant mouse generation; beam-walking test; Western blot with novel monoclonal anti-mouse ε-sarcoglycan antibody developed in Sgce KO mice Journal of biochemistry Medium 20627944
2016 Loss of Sgce in the striatum specifically impairs long-term depression (LTD) at corticostriatal glutamatergic synapses in medium spiny neurons, without affecting intrinsic electrophysiological properties or basal synaptic transmission. Pharmacological inhibition of adenosine A2A receptors (A2AR) restores LTD in Sgce mutant mice. RNAseq of Sgce mutant striatum; electrophysiological recordings (LTD induction by high-frequency stimulation) in striatal medium spiny neurons and cholinergic interneurons; pharmacological A2AR inhibition Neurobiology of disease High 28823931
2019 Acute knockdown of Sgce specifically in the cerebellum (but not the basal ganglia) of adult mice produces dystonia and repetitive myoclonic-like jerking movements that improve after ethanol administration, demonstrating that cerebellar loss of ε-sarcoglycan is sufficient to cause the core DYT11 motor symptoms and that aberrant cerebellar activity underlies the motor phenotype. shRNA-mediated acute knockdown of Sgce in adult mouse cerebellum or basal ganglia; behavioral assessment of dystonia and myoclonus; ethanol administration eLife High 31868164
2016 Immunoaffinity purification followed by mass spectrometry of Sgce-mutant mouse brain showed significant reductions of ε-SG and other interacting sarcoglycans, indicating that ε-sarcoglycan forms complexes with other sarcoglycan family members in brain. The brain-specific Sgce isoform incorporating exon 11b is most highly expressed in cerebellum (Purkinje cells and dentate nucleus neurons). Immunoaffinity purification with pan- or brain-specific ε-SG antibodies followed by mass spectrometry; isoform expression analysis; gene-trap mouse model Neurobiology of disease Medium 27890709
2017 iPSC-derived cortical neurons from myoclonus-dystonia patients with SGCE mutations (W100G and R102X) maintain faithful maternal imprinting of SGCE (differential methylation is tissue-independent). The brain-specific SGCE mRNA isoform and ε-sarcoglycan protein are detected in iPSC-derived neurons (but not in fibroblasts), and neuronal protein levels are reduced in both mutant lines. Methylation-specific PCR; cDNA analysis; RT-PCR for brain-specific isoform; Western blot for ε-sarcoglycan protein; iPSC reprogramming and neuronal differentiation Scientific reports Medium 28155872
2020 SGCE functions as a sponge molecule that prevents interaction between EGFR and its E3 ubiquitin ligase c-Cbl, thereby inhibiting EGFR lysosomal degradation and stabilizing EGFR protein in breast cancer stem cells. SGCE depletion promotes sensitivity to EGFR tyrosine kinase inhibitors. Co-immunoprecipitation of SGCE with EGFR and c-Cbl; SGCE knockdown with assessment of EGFR protein stability; in vitro and in vivo functional assays; single-cell resolution gene expression analysis Advanced science (Weinheim, Baden-Wurttemberg, Germany) Medium 32714745
2023 SGCE mutations cause cortical neuronal hyperexcitability: iPSC-derived cortical glutamatergic neurons carrying SGCE mutations show increased network activity, greater propensity for action potential generation, longer axon initial segments, and more complex dendritic morphology compared to isogenic wild-type controls. SGCE mutations are associated with higher presynaptic neurexin-1 and lower postsynaptic neuroligin-4 levels, indicating disruption of synaptic adhesion molecule expression. CRISPR/Cas9-edited human embryonic stem cell line with SGCE compound heterozygous mutation; patient-derived iPSC lines with isogenic wild-type controls; Ca2+ imaging; microelectrode array; single-cell patch clamp; bulk RNA sequencing; dendritic morphology analysis; Western blot for synaptic proteins and receptor subunits Brain : a journal of neurology High 36204995
2021 iPSC-derived striatal medium spiny neurons (MSNs) from SGCE mutation carriers show elevated basal intracellular Ca2+ content, lower frequency of spontaneous Ca2+ signals, increased Ca2+ amplitudes upon glycine and acetylcholine application, reduced GABAergic synaptic density, and elevated amplitudes of miniature postsynaptic currents and action potentials, indicating that SGCE loss causes specific alterations in MSN calcium signaling and synaptic function. iPSC-derived striatal MSN differentiation; calcium imaging; whole-cell patch-clamp recordings; immunofluorescence for GABAergic synaptic density; pharmacological blocking with verapamil International journal of molecular sciences Medium 33808167
2023 SGCE interacts with the transcription factor Sp1 and translocates into the nucleus, leading to increased transcription of the secreted oncoprotein FGF-BP1, which in turn activates FGF-FGFR signaling to promote cancer cell stemness. Co-immunoprecipitation of SGCE with Sp1; nuclear translocation assay; FGF-BP1 promoter transcription assays; SGCE knockdown with FGF-BP1 expression measurement The Journal of biological chemistry Medium 37838174
2022 Two SGCE missense mutations (c.662G>T/p.Gly221Val and c.1345A>G/p.Met449Val) and a 15 bp deletion (c.168_182del/p.Phe58_Leu62del) cause significant reduction in cell membrane expression of ε-sarcoglycan. Minigene assays demonstrated that c.662G>T and c.825+1G>C mutations cause complete skipping of exon 5 and exon 6, respectively. HiBiT bioluminescence assay for cell membrane expression; minigene splicing assay Clinical genetics Medium 36161439
2025 Purkinje cells from Sgce KO mice show altered spontaneous firing and intrinsic excitability changes compared to wild-type mice, without changes in intrinsic membrane properties. Female Sgce KO mice have more profound alterations in Purkinje cell firing than males, correlating with earlier symptom onset and more pronounced myoclonus in female mice. Acute cerebellar slice electrophysiological recordings in Sgce KO mice; comparison of spontaneous firing rates and intrinsic excitability between sexes Dystonia (Lausanne, Switzerland) Medium 40557327
2026 SGCE mutation-carrying MGE-derived inhibitory GABAergic neurons show transcriptomic dysregulation in genes related to axonal organization, synaptic signalling, and action potential generation; reduced neurite outgrowth; lower calcium responses to GABA; decreased neuronal excitability and network activity; and fewer spontaneous postsynaptic currents compared to isogenic wild-type controls. This hypoactive inhibitory phenotype contrasts with the hyperexcitable phenotype previously observed in SGCE-mutant cortical glutamatergic neurons, indicating disruption of excitatory-inhibitory balance. Patient-derived iPSC and CRISPR/Cas9-edited ESC lines; single-cell RNA sequencing; Ca2+ imaging; multi-electrode array; whole-cell patch-clamp; dendritic morphology analysis Brain : a journal of neurology High 40711998

Source papers

Stage 0 corpus · 76 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2003 The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. European journal of human genetics : EJHG 114 12634861
2008 Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology 100 18362280
2007 SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Human molecular genetics 96 17200151
2013 SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain : a journal of neurology 87 23365103
2008 Myoclonus-dystonia: significance of large SGCE deletions. Human mutation 84 18205193
2003 Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta. Biology of reproduction 72 12620933
2010 SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? European journal of human genetics : EJHG 70 21157498
2007 Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 69 17296918
2020 SGCE Promotes Breast Cancer Stem Cells by Stabilizing EGFR. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 63 32714745
2013 Metabolic changes in DYT11 myoclonus-dystonia. Neurology 62 23284065
2014 SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. Journal of neurology 59 25209853
2015 Psychiatric disorders, myoclonus dystonia and SGCE: an international study. Annals of clinical and translational neurology 44 26783545
2011 Impaired saccadic adaptation in DYT11 dystonia. Journal of neurology, neurosurgery, and psychiatry 43 21386109
2008 A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. Movement disorders : official journal of the Movement Disorder Society 43 18759336
2012 Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia. PloS one 39 22438980
2019 Acute cerebellar knockdown of Sgce reproduces salient features of myoclonus-dystonia (DYT11) in mice. eLife 38 31868164
2010 Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce. Journal of biochemistry 36 20627944
2009 Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation. Clinical neurology and neurosurgery 36 19896264
2017 Abnormal striatal plasticity in a DYT11/SGCE myoclonus dystonia mouse model is reversed by adenosine A2A receptor inhibition. Neurobiology of disease 35 28823931
2011 Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models. Behavioural brain research 34 22040906
2016 Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. Neurobiology of disease 31 27890709
2013 Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. Movement disorders : official journal of the Movement Disorder Society 27 23677909
2008 Cortical excitability in DYT-11 positive myoclonus dystonia. Movement disorders : official journal of the Movement Disorder Society 21 18265016
2014 Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia. Neurology 18 25150291
2010 MMP-7 and SGCE as distinctive molecular factors in sporadic colorectal cancers from the mutator phenotype pathway. International journal of oncology 18 20372795
2023 Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. Brain : a journal of neurology 16 36204995
2008 Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. Journal of human genetics 16 18651096
2017 Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia. Scientific reports 15 28155872
2008 Large deletions account for an increasing number of mutations in SGCE. Movement disorders : official journal of the Movement Disorder Society 15 18098280
2020 Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome. Parkinsonism & related disorders 14 33022436
2014 An Asian Patient with Myoclonus-Dystonia (DYT11) Responsive to Deep Brain Stimulation of the Globus Pallidus Internus. Case reports in neurological medicine 13 24716024
2007 Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. Movement disorders : official journal of the Movement Disorder Society 13 17702041
2021 Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons. International journal of molecular sciences 12 33808167
2020 The Landscape of Genomic Imprinting at the Porcine SGCE/PEG10 Locus from Methylome and Transcriptome of Parthenogenetic Embryos. G3 (Bethesda, Md.) 11 32878957
2023 SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1. The Journal of biological chemistry 10 37838174
2010 Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome. Parkinsonism & related disorders 10 20800530
2004 Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. Movement disorders : official journal of the Movement Disorder Society 9 15368614
2020 Population Prevalence of Deleterious SGCE Variants. Tremor and other hyperkinetic movements (New York, N.Y.) 8 33200041
2018 Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia. Movement disorders : official journal of the Movement Disorder Society 8 30334277
2016 Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study. Frontiers in neurology 8 27242657
2015 A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 6 26278497
2012 Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE. Clinical genetics 6 23140253
2011 A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype. Acta paediatrica (Oslo, Norway : 1992) 6 22026499
2009 Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 6 19147379
2017 Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation. Parkinsonism & related disorders 5 28690014
2018 Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability. Tremor and other hyperkinetic movements (New York, N.Y.) 4 29607243
2020 A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 3 32955639
2019 A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia. Movement disorders clinical practice 3 31392249
2024 Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations. Journal of neurology 2 38575756
2022 Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus-dystonia. Clinical case reports 2 35340658
2019 Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome. Neuroscience letters 2 30849405
2018 Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2 29429788
2015 Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE. Pediatrics international : official journal of the Japan Pediatric Society 2 25868953
2013 A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome. Neurological research 2 23561547
2025 Sex-specific alterations of Purkinje cell firing in Sgce knockout mice and correlations with myoclonus. Dystonia (Lausanne, Switzerland) 1 40557327
2024 Novel SGCE Mutation in a Patient With Myoclonus-Dystonia: A Case Report. Neurology. Genetics 1 38486676
2024 Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant. American journal of medical genetics. Part A 1 39704115
2022 A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report. BMC neurology 1 34986800
2022 Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia. Clinical genetics 1 36161439
2020 [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants]. Zhonghua er ke za zhi = Chinese journal of pediatrics 1 32102149
2020 Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy? Neurologia i neurochirurgia polska 1 32115676
2026 Transcriptomic disruption and hypoactivity in DYT-SGCE medial ganglionic eminence-patterned inhibitory neurons. Brain : a journal of neurology 0 40711998
2026 Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant. European journal of medical genetics 0 41747888
2026 Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant. European journal of medical genetics 0 41780719
2026 Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia. Frontiers in neurology 0 41982418
2026 Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic Movements. Movement disorders : official journal of the Movement Disorder Society 0 42063207
2026 An 18-fluorodeoxyglucose-PET study in SGCE positive and negative myoclonus-dystonia. Brain communications 0 42164952
2025 SGCE Myoclonus Dystonia: A Case Report. Ethiopian journal of health sciences 0 40717718
2025 From SGCE gene to symptoms: decoding myoclonus-dystonia. Acta neurologica Belgica 0 41331696
2025 Infantile Epsilon-Sarcoglycan (SGCE) Myoclonus-Dystonia: Diagnostic Pitfalls and Poor Response to Pharmacologic Treatment. Cureus 0 41613668
2024 The landscape of allelic expression and DNA methylation at the bovine SGCE/PEG10 locus. Animal genetics 0 38594908
2023 Two-Generation Epsilon-Sarcoglycan Gene (SGCE) Mutation-Associated Myoclonus-Dystonia (DYT-SGCE) Misdiagnosed as Tourette's Syndrome: A Case Series. Cureus 0 37846277
2022 A Case Report of Siblings with Dystonia: A Potential Link Between DYT11 Mutation and Platelet Dysfunction. Neurology India 0 35263928
2022 A Japanese family with dystonia due to a pathogenic variant in SGCE. Human genome variation 0 35995778
2022 Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report. Parkinsonism & related disorders 0 36274329
2019 Gait Impairment in Myoclonus-Dystonia (DYT-SGCE). Tremor and other hyperkinetic movements (New York, N.Y.) 0 31413899

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