ATP6V1A 基因新突变导致印度男童出现婴儿痉挛症
Novel Mutation in ATP6V1A Gene with Infantile Spasms in an Indian Boy.
机构信息
Department of Pediatric Neurology, Ankura Hospital for Women and Children, Hyderabad, Telangana, India.
出版信息
Neuropediatrics. 2020 Aug;51(4):292-294. doi: 10.1055/s-0040-1701657. Epub 2020 Feb 11.
PMID:32045939
Abstract
A 7-month-old boy with a novel mutation in gene is described. The gene has been recently identified to be associated with epileptic encephalopathies. Clinical features in this patient are different from cases reported so far, thus broadening the spectrum of -associated epileptic encephalopathy.
摘要
现报道 1 例基因新型突变的 7 月龄男婴。该基因最近被确定与癫痫性脑病有关。本患儿的临床表现与既往报道的病例不同，从而拓宽了 -相关癫痫性脑病的谱。
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