Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.A1329D
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SCN2A

NM_001040142.2:p.A1329D

Associated Papers

Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood Epilepsies.

Oberlack A et al.

Neuropediatrics, 2026

Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy.

Wagner M et al.

Nature Medicine, 2025

Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.

Berecki G et al.

Brain : a Journal of Neurology, 2025

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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."