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Article

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.

BMC pediatrics - 30 Jul 2022

Gu Chunyu, Lu Xiaowei, Ma Jinhui, Pu Linjie, Zhi Xiufang, Shu Jianbo, Li Dong, Cai Chunquan

Abstract excerpt

BACKGROUND: Variants in the DEPDC5 have been proved to be main cause of not only various dominant familial focal epilepsies, but also sporadic focal epilepsies. In the present study, a novel variant in DEPDC5 was detected in the patient with focal epilepsy and his healthy father. We aimed to analyze the pathogenic DEPDC5 variant in the small family of three. CASE PRESENTATION: A 5-month-old male infant presented...

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Identifiers

PMID: 35907814
DOI: 10.1186/s12887-022-03515-8
PMCID: PMC9338555

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