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Article

Aberrant RNA splicing caused by variant in DEPDC5 identified in a patient with pharmacoresistant epilepsy.

Neurogenetics - 16 Mar 2026

Zhou Cong, Wei Xing, Xiang Qinqin, Mai Jingqun, Wang Jing

Abstract excerpt

Familial focal epilepsy with variable foci-1 (FFEVF1) is an autosomal dominant form of epilepsy. The phenotypic spectrum of FFEVF1 is wide, with incomplete penetrance. Therefore, making a definite diagnosis based solely on the phenotype of patients is challenging. We report a 6-year-old female patient presenting with epilepsy, global developmental delay, coarctation of the aortic arch, and neuronal migration...

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

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Source

Identifiers

PMID: 41838247
DOI: 10.1007/s10048-026-00890-7

Genes

DEPDC5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Aberrant RNA splicing caused by variant in DEPDC5 identified in a patient with pharmacoresistant epilepsy.PMID 41838247Read ↗

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Mutations in DEPDC5 cause familial focal epilepsy with variable foci.Semantic proximity Read ↗

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