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

• Hoofdauteurs: Chunyu Gu (Auteur), Xiaowei Lu (Auteur), Jinhui Ma (Auteur), Linjie Pu (Auteur), Xiufang Zhi (Auteur), Jianbo Shu (Auteur), Dong Li (Auteur), Chunquan Cai (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2022-07-01T00:00:00Z.
• Onderwerpen: article
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Abstract 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...