Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.
Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.
复制标题
DOI：
10.1038/s41439-018-0019-5
复制
发表时间：
2018
影响因子：
1.5
通讯作者：
Kurosawa K
中科院分区：
文献类型：
--
作者：
Yokoi T;Enomoto Y;Tsurusaki Y;Naruto T;Kurosawa K
SCN2A 突变主要与多种癫痫综合征相关。最近，SCN2A 被报道为导致非综合征性智力障碍或自闭症谱系障碍的基因。在这里，我们介绍了一名患有非综合征性智力障碍的 12 岁女孩的病例，她在 SCN2A 中表现出杂合的从头错义突变。她在患病期间出现癫痫发作。该病例表明，携带 SCN2A 杂合突变的患者的表型可能存在差异。
SCN2A mutations are primarily associated with a variety of epilepsy syndromes. Recently, SCN2A has been reported as a gene responsible for nonsyndromic intellectual disability or autism spectrum disorders. Here, we present a case of a 12-year-old girl with nonsyndromic intellectual disability who exhibited a heterozygous de novo missense mutation in SCN2A. She developed seizures during the course of illness. This case suggests that the phenotype of patients with heterozygous SCN2A mutations can be variable.