Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum
Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum
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DOI：
10.1016/j.ejpn.2016.03.011
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发表时间：
2016-07-01
影响因子：
3.1
通讯作者：
Tabarki, Brahim
中科院分区：
文献类型：
--
作者：
Hundallah, Khaled;Alenizi, Asma'a;Tabarki, Brahim
背景：最近，KCNA2 基因出现新的功能丧失或功能获得突变；已在患有癫痫性脑病、共济失调或智力障碍的个体中描述过。病例描述：在本报告中，我们描述了另一例 KCNA2-早发性癫痫性脑病。患者自出生起就出现顽固性癫痫发作、进行性小头畸形、发育迟缓和进行性脑萎缩。全外显子组测序显示 KCNA2 基因出现新的从头突变：c.1120A > G (p.Thr374A1a)。 结论：该病例扩大了 KCNA2 早发性癫痫性脑病这种遗传形式的基因型和表型疾病谱。 (C) 2016 年欧洲小儿神经病学协会。由爱思唯尔有限公司出版。保留所有权利。
Background: Recently, de novo loss- or gain-of-function mutations in the KCNA2 gene; have been described in individuals with epileptic encephalopathy, ataxia or intellectual disability.Case description: In this report, we describe a further case of KCNA2-early-onset epileptic encephalopathy. The patient presented since birth with intractable seizures, progressive microcephaly, developmental delay, and progressive brain atrophy. Whole-exome sequencing showed a novel de novo mutation in the KCNA2 gene: c.1120A > G (p.Thr374A1a).Conclusion: This case expands the genotypic and phenotypic disease spectrum of this genetic form of KCNA2-early onset epileptic encephalopathy. (C) 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.