Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.I1750del1
Back to variants list

SCN8A

NM_001330260.2:p.I1750del1

Associated Papers

Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.

Wang JY et al.

Frontiers in Molecular Neuroscience, 2022

Distinctive Properties and Powerful Neuromodulation of Nav1.6 Sodium Channels Regulates Neuronal Excitability.

Zybura A et al.

Cells, 2021

Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease.

Wong JC et al.

Frontiers in Pharmacology, 2021

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.

Jones JM et al.

Neurobiology of Disease, 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."