Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B-Reference-Cited by-同舟云学术

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B

Published:2019-08-29 Issue:11 Volume:179 Page:2190-2195
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Darras Natasha¹^ORCID,Ha Thoa K.²,Rego Shannon²,Martin Pierre‐Marie³,Barroso Eva⁴,Slavotinek Anne M.²,Cilio Maria R.³⁵⁶

Affiliation:

1. Department of PathologyUniversity of California San Francisco San Francisco California

2. Division of Medical Genetics, Department of PediatricsUniversity of California San Francisco San Francisco California

3. Institute for Human Genetics, University of California San Francisco San Francisco California

4. Department of Molecular Genetics, Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM) Madrid Spain

5. Division of Pediatric Epilepsy, Department of NeurologyUniversity of California San Francisco California USA

6. Division of Pediatric Neurology, Department of PediatricsUniversity of Louvain Brussels Belgium

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61344

Reference16 articles.

1. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

2. An Emerging Role for Voltage-Gated Na+ Channels in Cellular Migration: Regulation of Central Nervous System Development and Potentiation of Invasive Cancers

3. Voltage-gated Na+channels: Potential for β subunits as therapeutic targets

4. Na+ Channel ? Subunits: Overachievers of the Ion Channel Family

5. From Ionic Currents to Molecular Mechanisms

Cited by 12 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. Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population;Journal of Human Genetics;2024-06-17

2. Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review;Human Mutation;2024-01

3. Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients;Frontiers in Neurology;2023-12-18

4. Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy;Brain Communications;2023

5. SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy;Children;2022-10-01