Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene

被引：25

作者：

Hackenberg, Annette ^{[1
]}

Baumer, Alessandra ^{[2
]}

Sticht, Heinrich ^{[3
]}

Schmitt, Bernhard ^{[1
,4
]}

Kroell-Seger, Judith ^{[5
]}

Wille, David ^{[1
]}

Joset, Pascal ^{[2
]}

Papuc, Sorina ^{[2
]}

Rauch, Anita ^{[2
,4
,6
]}

Plecko, Barbara ^{[1
,4
,6
]}

机构：

[1] Univ Childrens Hosp Zurich, Div Neurol, Dept Pediat, CH-8032 Zurich, Switzerland

[2] Univ Zurich, Inst Med Genet, Zurich, Switzerland

[3] Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany

[4] CRC Clin Res Ctr Univ, Childrens Hosp Zurich, Zurich, Switzerland

[5] Swiss Epilepsy Ctr, Zurich, Switzerland

[6] Univ Zurich, Radiz Rare Dis Initiat Zurich, Clin Res Prior Program Rare Dis, Zurich, Switzerland

来源：

NEUROPEDIATRICS | 2014年 / 45卷 / 04期

关键词：

intellectual disability; choreoathetosis; voltage-gated sodium channel; seizures; CLINICAL SPECTRUM;

D O I：

10.1055/s-0034-1372302

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene (c.4025T > C/ = ; p.L1342P/ = ), who presented with a transient choreatic movement disorder, hypersomnia, and progressive brain atrophy. Whole exome sequencing did not reveal any other disease causing mutation. Our patient contributes to the expanding phenotypic spectrum of SCN2A-related disorders and underlines the importance of genetic workup in epileptic encephalopathies.

引用

页码：261 / 264

页数：4

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