Article

Gene therapies alleviate absence epilepsy associated with <i>Scn2a</i> deficiency in DBA/2J mice

2025-06-06

Abstract excerpt

Mutations in the voltage-gated sodium channel gene SCN2A , which encodes the Na V 1.2 channel, cause severe epileptic seizures. Patients with SCN2A loss-of-function (LoF) mutations, such as protein-truncating mutations, often experience later-onset and drug-resistant epilepsy, highlighting an urgent unmet clinical need for new therapies. We previously developed a gene-trap Scn2a ( Scn2a gt/gt ) mouse model w...

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Literature Corpus work: 04cfa58e-8a05-54b4-a750-1c51ea676735
DOI: 10.1101/2025.06.03.657652

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