Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.A965V
Back to variants list

KCNT1

NM_020822.3:p.A965V

Associated Papers

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Barcia G et al.

Epilepsia Open, 2025

40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS

Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Kessi M et al.

Frontiers in Genetics, 2020

32655623 (PubMed )
Supplement: Table_1.docx

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Barcia G et al.

Neurology. Genetics, 2019

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."