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

• मुख्य लेखकों: Chunyu Gu (लेखक), Xiaowei Lu (लेखक), Jinhui Ma (लेखक), Linjie Pu (लेखक), Xiufang Zhi (लेखक), Jianbo Shu (लेखक), Dong Li (लेखक), Chunquan Cai (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2022-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...