Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.R96Q
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SCN1B

NM_001037.5:p.R96Q

Associated Papers

Exertional-Related Sudden Cardiac Death in a Young, Presumed Healthy, and Medically Screened Population: A Military Case Series.

McLeod EV et al.

The American Journal of Forensic Medicine and Pathology, 2023

Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.

Fang H et al.

Frontiers in Neurology, 2023

SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy.

Zhu Z et al.

Children (basel, Switzerland), 2022

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.

van der Werf IM et al.

European Journal of Human Genetics : Ejhg, 2020

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.

Ramadan W et al.

Clinical Genetics, 2017

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Bagnall RD et al.

Annals of Neurology, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."