De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy
نویسندگان
چکیده
منابع مشابه
Echinoderm microtubule-associated protein -like protein 5 in anterior temporal neocortex of patients with intractable epilepsy
Objective(s):EMAP-like Protein 5 (EML5) is a new echinoderm microtubule-associated protein that is expressed in the central nervous system. The aim of this study was to investigate the expression profile of EML5 in the anterior temporal neocortex of patients presenting with intractable epilepsy (IE). Materials and Methods:Western blot assays were performed to determine EML5 expression in 36 su...
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OBJECTIVE N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD). In this study, we investigated the phenotype and underlying molecular mechanism of a GRIN2A missense mutation identified by next generation sequencing on idiopathic focal ...
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متن کاملTwo definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation
The DEPDC5 gene (OMIM #614191), mapped to 22q12.2-q12.3, encodes the DEP domain-containing protein 5. DEPDC5 has been associated with a variety of familial epilepsies, including familial focal epilepsy with variable foci, autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy, epileptic spasms, and cortical dysplasia.(1-4) Notably, DEPDC5 has never been linked to in...
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ژورنال
عنوان ژورنال: Seizure
سال: 2017
ISSN: 1059-1311
DOI: 10.1016/j.seizure.2017.03.014