Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.C959R
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SCN2A

NM_001040142.2:p.C959R

Associated Papers

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

Ohmori I et al.

Epilepsia, 2006

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Claes L et al.

Human Mutation, 2003

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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."