Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.N1329D
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SCN8A

NM_001330260.2:p.N1329D

Associated Papers

Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features.

Hack JB et al.

Neurology. Genetics, 2023

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Butler KM et al.

Pediatric Neurology, 2017

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

Butler KM et al.

Epilepsy Research, 2017

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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."