一名患有癫痫发作和发育迟缓儿童的基因突变
mutation in a child presenting with seizures and developmental delays.
作者信息
Malcolmson Janet, Kleyner Robert, Tegay David, Adams Whit, Ward Kenneth, Coppinger Justine, Nelson Lesa, Meisler Miriam H, Wang Kai, Robison Reid, Lyon Gholson J
机构信息
Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Genetic Counseling Graduate Program, Long Island University (LIU), Brookville, New York 11548, USA.
Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
出版信息
Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001073. doi: 10.1101/mcs.a001073.
The gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.
该基因编码钠电压门控通道α亚基8。该基因的突变与13型早发性婴儿癫痫性脑病相关。通过全外显子组测序，在一名4岁女性中发现了一个新发的错义突变，该女性在5个月大时最初出现癫痫症状，病情进展严重，几乎无法活动，包括无法独自坐立或行走。
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