Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature

被引：17

作者：

Inuzuka, Luciana Midori ^{[1
,4
]}

Macedo-Souza, Lucia Ines ^{[4
]}

Della-Ripa, Bruno ^{[4
]}

Cabral, Katiane S. S. ^{[4
]}

Monteiro, Fabiola ^{[3
]}

Kitajima, Joao Paulo ^{[3
]}

de Souza Godoy, Luis Filipe ^{[2
]}

Delgado, Daniel de Souza ^{[2
]}

Kok, Fernando ^{[3
,4
]}

Garzon, Eliana ^{[1
,4
]}

机构：

[1] Hosp Sirio Libanes, Epilepsy Clin, Sao Paulo, Brazil

[2] Hosp Sirio Libanes, Radiol Dept, Sao Paulo, Brazil

[3] Mendel Genom Anal, Sao Paulo, Brazil

[4] Univ Sao Paulo, Dept Neurol, Sch Med, Av Dr Eneas Carvalho de Aguiar 255, BR-05403000 Sao Paulo, SP, Brazil

来源：

BRAIN & DEVELOPMENT | 2020年 / 42卷 / 02期

关键词：

SCN3A; Epilepsy; Epileptic encephalopathy; Polymicrogyria; SCN3A; MUTATION;

D O I：

10.1016/j.braindev.2019.09.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. Polymicrogyria, a disorder of progenitor cells proliferation and migration, is an unanticipated finding for an ion channel dysfunction. (C) 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

引用

页码：211 / 216

页数：6