2024
DOI: 10.1111/cge.14476
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CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation

Yu‐Jie Chen,
Wen‐Jie Wang,
Dong‐Fang Zou
et al.

Abstract: 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) epilepsy. These variants did not present or had low frequencies in the gnomAD populations and were … Show more

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