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
- Dystonia is a movement disorder characterized by abnormal, sustained or intermittent movements and/or postures, which are often exacerbated by voluntary action and associated with overflow phenomena. The current classification is structured along two axes: a clinical axis, which considers features such as age at onset and pattern of distribution, and an etiological axis, which integrates genetic, acquired and anatomical causes. Genetic dystonias constitute a broad and heterogeneous group, frequently beginning in childhood or adolescence, and may present as isolated, combined or complex forms. Among the most relevant entities are dystonias associated with TOR1A, THAP1, GCH1, SGCE and KMT2B, each with distinctive clinical, genetic and therapeutic characteristics. Early recognition of these conditions is essential, given its impact on etiological diagnosis, genetic counseling and therapeutic decision-making, including the use of targeted treatments and advanced therapies such as deep brain stimulation. Ongoing advances in molecular genetics have expanded the known phenotypic spectrum, underscoring the importance of an integrated diagnostic approach to optimize the management and prognosis of patients with dystonia. - Source: PubMed
Muñoz-Chesta DanielaTroncoso-Schifferli Mónica - 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