Ask about this productRelated genes to: SGCE antibody
- Gene:
- SGCE NIH gene
- Name:
- sarcoglycan epsilon
- Previous symbol:
- DYT11
- Synonyms:
- -
- Chromosome:
- 7q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-01-11
- Date modifiied:
- 2019-04-23
Related products to: SGCE antibody
Related articles to: SGCE antibody
- DYT-PRKRA (formerly DYT16) is an autosomal recessive dystonia-parkinsonism syndrome caused by biallelic pathogenic variants in PRKRA, a gene encoding the stress-responsive protein PACT. While early-onset generalized dystonia and speech disturbance are well-recognized features, pathological startle has not previously been described. - Source: PubMed
Publication date: 2026/08/16
Ledingham DavidWiblin LouWarren NaomiHorvath RitaBurn David JBaker Mark R - - Source: PubMed
Publication date: 2026/08/03
Peng XiaoxueYu JilinLei XiaoyangYang LangTian YaoyuGong PengyuYou ShoujiangHe Dian - Myoclonus-dystonia syndrome (MDS) is a movement disorder syndrome characterized primarily by myoclonus as the core feature. In this study, we reported a case of MDS with myoclonus as the prominent feature, which was accompanied by learning disability and special face. We then used copy number variation sequencing (CNV-seq), whole exome sequencing (WES) and Sanger sequencing to verify the MDS related genes of the patient and his family members. We found that the patient carried a heterozygous mutation of gene c.731dup (p.Asn244Lysfs*6) related to MDS, which inherited from his father. It was the first reported new mutation at home and abroad. And we confirmed prenatal diagnosis that his fetus also had a heterozygous mutation of gene c.731dup (p.Asn244Lysfs*6). In addition, we also found that there was a 1.40 Mb repeat fragment at p23.1 on chromosome 8 of the patient, which partially overlapped with 8p23.1 repeat syndrome. It is speculated that it may be related to the learning disability and special facial phenotype of the patient, and it was a variant. This study not only clarified the etiology of the patient's myoclonus, but also enriched the genetic variation database of gene by the newly discovered heterozygous heterozygous site of c.731dup (p.Asn244Lysfs*6) of gene, which was helpful to improve the clinician's awareness of diagnosis of MDS and provide guidance for the patient's fertility. - Source: PubMed
Ou Han-XiaoZhou XiaChen Li-YaCai WeiZhang Wen-MaoZhu QunMu Hong-Xiang - While genetic testing in Movement Disorders (MD) has expanded enormously, access to genetic testing and genetic counseling remains asymmetric at the global scale. Guidance on efficient testing strategies for clinicians, governments and stakeholders is crucial. - Source: PubMed
Publication date: 2026/05/22
Carvalho VanessaGuedes Leonor CorreiaGatto EmiliaRodriguez-Violante MayelaKlein ChristineRodriguez-Porcel FedericoMorgante FrancescaRossi MalcoMiranda MarceloGanos ChristosRiboldi Giulietta MCesarini MartinDarling AlejandraSkorvanek Matejvan de Warrenburg BartShalash AliCossu GiovanniFriedman JenniferAlbanese AlbertoCardozo AdrianaLohmann KatjaThaler AvnerStamelou MariaSaunders-Pullman RachelMarras ConnieSarva HariniBhatia Kailash PFerreira Joaquim J - : Dystonia is a heterogeneous hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures. Although numerous genes associated with dystonia have been identified, the genetic background remains unknown in many patients. Data on genotype-phenotype correlations in Polish populations remain limited. : To analyze the clinical characteristics of patients with generalized dystonia and compare clinical features between individuals with and without genetically confirmed dystonia-causative variants in a Polish cohort. : A retrospective analysis of patients diagnosed with generalized dystonia at a single neurological center was performed. Diagnosis was established according to MDS criteria. Genetic analysis included whole-exome sequencing, targeted NGS genetic panel, MLPA, Sanger sequencing and PCR_RFLP analysis. Clinical and demographic data were extracted from medical records. Clinical characteristics of individuals with and without causative variants were compared. : A total of 113 patients with generalized dystonia were included. Genetic variants were identified in 13 patients (11.5%). These included variants within the , , , , , , , , , and genes. We found detailed clinical data of 46 patients included in the study. Our comparative analysis of patients with causative ( = 7) and without causative variants ( = 39) revealed no statistically significant differences in age of onset, initial symptom localization, treatment response, family history, or associated neurological features. : In this cohort of Polish patients with generalized dystonia, we identified pathogenic variants in approximately 11.5% of cases. No significant clinical differences were observed between patients with genetically confirmed dystonia and those without identified variants. In this study, we report the first two Polish cases with DYT- variants. Further studies are required to reveal the clinical heterogeneity of dystonia and characterize dystonia subtypes. - Source: PubMed
Publication date: 2026/05/21
Milanowski LukaszJurek MartaSalińska AnnaPodwysocka AleksandraFigura MonikaSzlufik StanisławGeremek MaciejNowak JuliaSzczałuba KrzysztofHoffman-Zacharska DorotaKoziorowski Dariusz