Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A1724T
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SCN1A

NM_001165963.4:p.A1724T

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

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

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.

Yang X et al.

Scientific Reports, 2017

29142202 (PubMed )
Supplement: 41598_2017_15814_MOESM1_ESM.pdf
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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."