Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.K245N
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SCN1A

NM_001165963.4:p.K245N

Associated Papers

Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis.

Zhou Z et al.

Seizure, 2023

Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.

Ashfaq A et al.

Genetics Research, 2022

Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models.

Chen W et al.

The Journal of Clinical Investigation, 2021

Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.

Maeda H et al.

Journal of Human Genetics, 2016

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.

Azmanov DN et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2010

SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy.

Morimoto M et al.

Epilepsia, 2006

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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."