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Article

De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy.

Seizure - 1 Aug 2017

Cen Zhidong, Guo Yufan, Lou Yuting, Jiang Biao, Wang Jianda, Feng Jianhua

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28549235
DOI: 10.1016/j.seizure.2017.03.014

Genes

DEPDC5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

Related research

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De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy.PMID 28549235Read ↗

DEPDC5 does it all: shared genetics for diverse epilepsy syndromes.Semantic proximity Read ↗

Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.Semantic proximity Read ↗

DEPDC5 mutations in genetic focal epilepsies of childhood.Semantic proximity Read ↗

DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.Semantic proximity Read ↗

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.Semantic proximity Read ↗

ADCY5 identified as a novel cause of benign hereditary chorea.Semantic proximity Read ↗

Clinical characteristics and genetic analysis of DEPDC5 gene variants related epilepsy in Chinese childrenSemantic proximity Read ↗

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.Semantic proximity Read ↗

Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature ReviewSemantic proximity Read ↗

De novo variant of SETD1A causes neurodevelopmental disorder with dysmorphic facies: A case report.Semantic proximity Read ↗

Mutations of DEPDC5 cause autosomal dominant focal epilepsies.Semantic proximity Read ↗

Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutationSemantic proximity Read ↗

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