Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.F1661S
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SCN2A

NM_001040142.2:p.F1661S

Associated Papers

Dravet syndrome: insights from in vitro experimental models.

Mantegazza M

Epilepsia, 2011

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

Rhodes TH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2004

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."