Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature-Reference-Cited by-同舟云学术

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

Published:2020-02 Issue:2 Volume:42 Page:211-216
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Inuzuka Luciana Midori,Macedo-Souza Lúcia Inês,Della-Ripa Bruno,Cabral Katiane S.S.,Monteiro Fabiola,Kitajima João Paulo,de Souza Godoy Luis Filipe,de Souza Delgado Daniel,Kok Fernando,Garzon Eliana

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference9 articles.

1. Mutations in cause early infantile epileptic encephalopathy;Zaman;Ann Neurol,2018

2. SCN3A deficiency associated with increased seizure susceptibility;Lamar;Neurobiol Dis,2017

3. Clinical exome sequencing: results from 2819 samples reflecting 1000 families;Trujillano;Eur J Hum Genet,2017

4. Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria;Miyatake;Ann Neurol,2018

5. Sodium channel SCN3A (Na(V)1.3) regulation of human cerebral cortical folding and oral motor development;Smith;Neuron,2018

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neurodevelopmental disorder in a patient with HMBS and SCN3A variants—A possibly blended phenotype further delineating autosomal recessive HMBS related disease;American Journal of Medical Genetics Part A;2024-04-03

2. Clinical heterogeneity of epilepsy and mutation spectrum of voltage-gated sodium channel genes;2024-01-02

3. Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy;Journal of Clinical Neurology;2024

4. Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy;Brain;2023-11-03

5. Voltage-Gated Sodium Channel Dysfunctions in Neurological Disorders;Life;2023-05-16