Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L1670W
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SCN1A

NM_001165963.4:p.L1670W

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.

Akbari Ahangar A et al.

Iscience, 2024

39286500 (PubMed )
Supplement: mmc1.pdf

SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction.

Bryson A et al.

Frontiers in Neurology, 2023

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

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

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

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels.

Chever O et al.

The Journal of Clinical Investigation, 2021

Sodium channelopathies of skeletal muscle and brain.

Mantegazza M et al.

Physiological Reviews, 2021

Deciphering in silico the Role of Mutated Na V 1.1 Sodium Channels in Enhancing Trigeminal Nociception in Familial Hemiplegic Migraine Type 3.

Suleimanova A et al.

Frontiers in Cellular Neuroscience, 2021

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

Ding J et al.

Frontiers in Neurology, 2021

A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.

Kluckova D et al.

Scientific Reports, 2020

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

Brunklaus A et al.

Human Mutation, 2020

Predicting the impact of sodium channel mutations in human brain disease.

Noebels JL

Epilepsia, 2019

31904123 (PubMed )
Supplement: EPI-60-S8.pdf

Gain of function of sporadic/familial hemiplegic migraine-causing SCN1A mutations: Use of an optimized cDNA.

Bertelli S et al.

Cephalalgia : an International Journal of Headache, 2019

Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine.

Dhifallah S et al.

Frontiers in Molecular Neuroscience, 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

Gaining Awareness of Increasingly Persistent SCN1A Mutations.

Wong JC

Epilepsy Currents, 0

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