Property Summary

NCBI Gene PubMed Count 79
Grant Count 16
R01 Count 3
Funding $1,373,616.75
PubMed Score 160.24
PubTator Score 154.01

Knowledge Summary

Patent

No data available

Expression

Gene RIF (62)

PMID Text
25209853 Tata confirms that SGCE mutations are most commonly identified in Myoclonus dystonia syndrome patients with (1) age at onset </=10 years and (2) predominant upper body involvement of a pure myoclonus-dystonia.
25150291 found one patient with a novel heterozygous frameshift mutation in the DYT11 gene
25034659 A novel frameshift mutation of the SGCE gene in an Iranian family with Myoclonus-dystonia syndrome confirming the variability of the clinical symptoms caused by the same mutation within members of a family.
24297365 The co-occurrence of seizures and myoclonus-dystonia suggests that they are both due to the same underlying SGCE mutation
23677909 The results of this study suggested performing gene dosage analysis by multiple ligation-dependent probe amplification (MLPA) to individuate large SGCE deletions that can be responsible for complex phenotypes.
23561547 In myoclonus-dystonia syndrome patients a substantial mutation in exon 3 of SGCE gene was found.
23365103 SGCE mutations are associated with a specific psychiatric phenotype consisting of compulsivity, anxiety and alcoholism in addition to the characteristic motor phenotype.
23284065 Although reduced penetrance in DYT11-MD has been attributed to the maternal imprinting epsilon-sarcoglycan mutations, NM-DYT11 carriers showed significant metabolic abnormalities that are not explained by this genetic model.
22626943 anxiety disorders and executive dysfunctions may be part of the phenotype of myoclonus-dystonia patients with a DYT11 mutation
22026499 This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol-induced dystonia.
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AA Sequence

MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKVHSDRNVYPSAGVLFVHVLEREYFKGE      1 - 70
FPPYPKPGEISNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTAENVGKPTIIEITAYNRRTFE     71 - 140
TARHNLIINIMSAEDFPLPYQAEFFIKNMNVEEMLASEVLGDFLGAVKNVWQPERLNAINITSALDRGGR    141 - 210
VPLPINDLKEGVYVMVGADVPFSSCLREVENPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLVDKTK    211 - 280
QVSTYQEVIRGEGILPDGGEYKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLILAYIMCCRREGVEKRN    281 - 350
MQTPDIQLVHHSAIQKSTKELRDMSKNREIAWPLSTLPVFHPVTGEIIPPLHTDNYDSTNMPLMQTQQNL    351 - 420
PHQTQIPQQQTTGKWYP                                                         421 - 437
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Text Mined References (85)

PMID Year Title
27242657 2016 Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26783545 2016 Psychiatric disorders, myoclonus dystonia and SGCE: an international study.
25868953 2015 Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
25582306 2015 Unusual ?-synuclein and cerebellar pathologies in a case of hereditary myoclonus-dystonia without SGCE mutation.
25209853 2014 SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
25204586 2014 Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder.
25150291 2014 Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.
25034659 2014 Myoclonus dystonia syndrome: a novel ?-sarcoglycan gene mutation with variable clinical symptoms.
24297365 2014 Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
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