Mutations inTNK2in severe autosomal recessive infantile onset epilepsy
نویسندگان
چکیده
منابع مشابه
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia
Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and phenotypically heterogeneous group includes infantile onset spinocerebellar ataxia (OMIM# 271245) a neurodegenerative disease caused by mutations in the mtDNA helicase gene, c10orf2, with an increased frequency in the Finnish population due to a found...
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OBJECTIVE To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy. METHODS We studied a cohort of 117 female patients with febrile seizures (FS) and a wide spectrum of epilepsy phenotypes including focal and generalized forms with either sporadic or familial distribution. RESULTS PCDH19 screening showed point mutations in 13 probands (11%). Mean age at seizure o...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2013
ISSN: 0364-5134
DOI: 10.1002/ana.23934