Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A889T
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SCN1A

NM_001165963.4:p.A889T

Associated Papers

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.

Bahl S et al.

Orphanet Journal of Rare Diseases, 2020

33267903 (PubMed )
Supplement: 13023_2020_1617_MOESM1_ESM.docx

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Ganesan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA et al.

Jama Network Open, 2020

Perineal stimulation triggering seizures in a child with Dravet syndrome.

Jain P et al.

Seizure, 2018

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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."