Article
DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.
Epileptic disorders : international epilepsy journal with videotape - 1 Jun 2024
Gu Chunyu, Wei Xinping, Yan Dandan, Cai Yingzi, Li Dong, Shu Jianbo, Cai Chunquan
Abstract excerpt
OBJECTIVE: DEPDC5 emerges to play a vital role in focal epilepsy. However, genotype-phenotype correlation in DEPDC5-related focal epilepsies is challenging and controversial. In this study, we aim to investigate the genotypic and phenotypic features in DEPDC5-affected patients. METHODS: Genetic testing combined with criteria published by the American College of Medical Genetics and Genomics and the Association...
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