Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L1624P
Back to variants list

SCN1A

NM_001165963.4:p.L1624P

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

Sodium channelopathies of skeletal muscle and brain.

Mantegazza M et al.

Physiological Reviews, 2021

Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.

Gotra P et al.

Molecular Neurobiology, 2021

SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Ding J et al.

Frontiers in Neurology, 2021

SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.

Brunklaus A et al.

Human Mutation, 2020

Epilepsy and migraine-Are they comorbidity?

Liao J et al.

Genes & Diseases, 2018

A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report.

Zhang Y et al.

Cephalalgia : an International Journal of Headache, 2017

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.

Fan C et al.

Cephalalgia : an International Journal of Headache, 2016

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."