Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.E1143_K1144Splc
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SCN1A

NM_001165963.4:p.E1143_K1144Splc

Associated Papers

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Pang N et al.

Bmc Medicine, 2025

40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3

Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis.

Mahdieh N et al.

Clinical Neurology and Neurosurgery, 2018

The SCN1A gene variants and epileptic encephalopathies.

Parihar R et al.

Journal of Human Genetics, 2013

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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."