A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report

• Main Authors: Kao-Min Lin (Author), Geng Su (Author), Fengpeng Wang (Author), Xiaobin Zhang (Author), Yuanqing Wang (Author), Jun Ren (Author), Xin Wang (Author), Yi Yao (Author), Ying Zhou (Author)
• Format: Book
• Published: BMC, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Epilepsy is a complex disorder caused by various factors, including genetic aberrance. Recent studies have identified an essential role of the sodium channel Nav1.6, encoded by the gene SCN8A, in epileptic encephalopathy. Case presentation Using parent-offspring trio targeted-exo...