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

• Main Authors: Chunyu Gu (Author), Xiaowei Lu (Author), Jinhui Ma (Author), Linjie Pu (Author), Xiufang Zhi (Author), Jianbo Shu (Author), Dong Li (Author), Chunquan Cai (Author)
• Format: Book
• Published: BMC, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...