CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation

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作者信息关键词期刊信息基础信息归属信息摘要

成果类型：

期刊论文

作者：

Chen, Yu-Jie;Wang, Wen-Jie;Zou, Dong-Fang;Luo, Jun-Xia;Jin, Pei-Yan;...

通讯作者：

Li, B;Chen, YJ

作者机构：

[Jin, Liang; Liu, Xiao-Rong; Li, B; Li, Bin; Liao, Wei-Ping; Chen, Yu-Jie] Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R China.

[Jin, Liang; Liu, Xiao-Rong; Li, B; Li, Bin; Liao, Wei-Ping; Chen, Yu-Jie] Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Guangdong, Peoples R China.

[Jin, Liang; Chen, Yong-Jun; Chen, Yu-Jie] Univ South China, Affiliated Nanhua Hosp, Hengyang Med Sch, Dept Neurol, Hengyang, Peoples R China.

[Wang, Wen-Jie] Lanzhou Univ Second Hosp, Dept Neurol, Lanzhou, Peoples R China.

[Zou, Dong-Fang] Shantou Univ Med Coll, Shenzhen Childrens Hosp, Epilepsy Ctr, Shenzhen, Peoples R China.

通讯机构：

[Li, B ] G

[Chen, YJ ] U

Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R China.

Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Guangdong, Peoples R China.

Univ South China, Affiliated Nanhua Hosp, Hengyang Med Sch, Dept Neurol, Hengyang, Peoples R China.

语种：

英文

关键词：

CCDC88C gene;congenital hydrocephalus;focal (partial) epilepsy;genotype-phenotype correlation

期刊：

Clinical Genetics

ISSN：

0009-9163

年：

2024

卷：

105

期：

页码：

397-405

DOI：

10.1111/cge.14476

基金类别：

Yu-Jie Chen and Wen-Jie Wang contributed equally to this work.

机构署名：

本校为通讯机构

院系归属：

医学院

摘要：

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 predicted to be damaging by multiple computational algorithms. Patients with de novo ...

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CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation

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