Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.E311*
Back to variants list

SCN1A

NM_001165963.4:p.E311*

Associated Papers

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS

Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases.

Buoni S et al.

Epilepsy & Behavior Case Reports, 2015

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

Orrico A et al.

Clinical Genetics, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."