Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation
✍ Scribed by Haugarvoll, Kristoffer; Tzoulis, Charalampos; Tran, Gia T.; Karlsen, Bjørn; Engelsen, Bernt A.; Knappskog, Per M.; Bindoff, Laurence A.
- Book ID
- 121557110
- Publisher
- Springer
- Year
- 2013
- Tongue
- English
- Weight
- 222 KB
- Volume
- 261
- Category
- Article
- ISSN
- 0340-5354
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## Abstract In a Chinese myoclonus‐dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the ε‐sarcoglycan (__SGCE__) gene, leading to a frameshift wi
## Abstract ## Background: Mutations in the maternally imprinted epsilon‐sarcoglycan gene occur in 30%–50% of myoclonus‐dystonia cases. Psychiatric symptoms, particularly obsessive‐compulsive disorder, have been described in some patients. ## Methods: We systematically reviewed 22 reports of psy