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Article

CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.

Clinical genetics - 1 Apr 2024

Chen Yu-Jie, Wang Wen-Jie, Zou Dong-Fang, Luo Jun-Xia, Jin Pei-Yan, Jin Liang, Liu Xiao-Rong, Liao Wei-Ping, Li Bin, Chen Yong-Jun

Abstract excerpt

CCDC88C gene, which encodes coiled-coil domain containing 88C, is essential for cell communication during neural development. Variants in the CCDC88C caused congenital hydrocephalus, some accompanied by seizures. In patients with epilepsy without acquired etiologies, we performed whole-exome sequencing (trio-based). Two de novo and two biallelic CCDC88C variants were identified in four cases with focal (partial)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38173219
DOI: 10.1111/cge.14476

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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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