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Article

DEPDC5 takes a second hit in familial focal epilepsy.

The Journal of clinical investigation - 1 Jun 2018

Anderson Matthew P

Abstract excerpt

Loss-of-function mutations in a single allele of the gene encoding DEP domain-containing 5 protein (DEPDC5) are commonly linked to familial focal epilepsy with variable foci; however, a subset of patients presents with focal cortical dysplasia that is proposed to result from a second-hit somatic mutation. In this issue of the JCI, Ribierre and colleagues provide several lines of evidence to support second-hit...

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Share to Epilepsies, Partial
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mechanistic Target of Rapamycin Complex 1

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Source

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Identifiers

PMID: 29708509
DOI: 10.1172/JCI121052
PMCID: PMC5983308

Genes

DEPDC5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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