Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.R1636*
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SCN1A

NM_001165963.4:p.R1636*

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

SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.

Stawicka E et al.

Current Issues in Molecular Biology, 2024

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Gallagher D et al.

Epilepsia, 2024

Cerebral hemiatrophy and hemiparesis following hemiclonic status epilepticus in Dravet syndrome.

Caraballo R et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Ko YJ et al.

Journal of Epilepsy Research, 2021

Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy.

Liu X et al.

Frontiers in Neurology, 2021

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.

Xiong J et al.

Frontiers in Neuroscience, 2019

31031587 (PubMed )
Supplement: Table_1.XLSX › no_ASD_group

Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.

Tsai MH et al.

Frontiers in Neurology, 2018

SCN1A mutational analysis in Korean patients with Dravet syndrome.

Lim BC et al.

Seizure, 2011

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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."