医学
吡哆醇
癫痫
突变
耐火材料(行星科学)
外显子组测序
儿科
复合杂合度
基因检测
基因突变
生物信息学
基因
内科学
遗传学
精神科
生物
天体生物学
作者
Ranjith Kumar Manokaran,RuchiR Mittal,Saji James
标识
DOI:10.4103/jpn.jpn_68_20
摘要
Pyridoxine-dependent epilepsy is a treatable cause of epilepsy, which is very well known. It is most commonly caused by mutations in ALDH7A1 and PNPO genes. A 5-month-old infant presented with refractory seizures. Magnetic resonance imaging (MRI) brain was normal. Clinical exome sequencing showed a novel mutation in PROSC gene. He responded very well to pyridoxine and has been seizure free since the beginning of the treatment. PROSC gene mutations have been recently described as a cause for pyridoxine-dependent epilepsy. Here, we describe a first case report of PROSC mutation from India with a rare genetic variant presenting as pyridoxine-dependent epilepsy.
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