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Matches in SemOpenAlex for { <https://semopenalex.org/work/W1964320147> ?p ?o ?g. }

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• W1964320147 abstract "The main familial focal epilepsies are autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy and familial focal epilepsy with variable foci. A frameshift mutation in the DEPDC5 gene (encoding DEP domain-containing protein 5) was identified in a family with focal epilepsy with variable foci by linkage analysis and exome sequencing. Subsequent pyrosequencing of DEPDC5 in a cohort of 15 additional families with focal epilepsies identified 4 nonsense mutations and 1 missense mutation. Our findings provided evidence of frequent (37%) loss-of-function mutations in DEPDC5 associated with a broad spectrum of focal epilepsies. The implication of a DEP (Dishevelled, Egl-10 and Pleckstrin) domain-containing protein that may be involved in membrane trafficking and/or G protein signaling opens new avenues for research." @default.
• W1964320147 created "2016-06-24" @default.
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• W1964320147 date "2013-03-31" @default.
• W1964320147 modified "2023-10-18" @default.
• W1964320147 title "Mutations of DEPDC5 cause autosomal dominant focal epilepsies" @default.
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• W1964320147 doi "https://doi.org/10.1038/ng.2601" @default.
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