Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L221P
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SCN1A

NM_001165963.4:p.L221P

Associated Papers

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.

Lai D et al.

Brain : a Journal of Neurology, 2022

The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.

Leduc-Pessah H et al.

Genes, 2022

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE et al.

Molecular Psychiatry, 2018

27550844 (PubMed )
Supplement: mp2016135x1.doc

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
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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."