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Article

Interneuron-specific dual-AAV SCN1A gene replacement corrects epileptic phenotypes in mouse models of Dravet syndrome.

Science translational medicine - 19 Mar 2025

Mich John K, Ryu Jiyun, Wei Aguan D, Gore Bryan B, Guo Rong, Bard Angela M, Martinez Refugio A, Luber Emily M, Liu Jiatai, Bishaw Yemeserach M, Christian Robert J, Oliveira Luiz M, Miranda Nicole, Ramirez Jan-Marino, Ting Jonathan T, Lein Ed S, Levi Boaz P, Kalume Franck K

Abstract excerpt

Dravet syndrome (DS) is a severe developmental epileptic encephalopathy marked by treatment-resistant seizures, developmental delay, intellectual disability, motor deficits, and a 10 to 20% rate of premature death. Most patients with DS harbor loss-of-function mutations in one copy of SCN1A, which encodes the voltage-gated sodium channel (NaV)1.1 alpha subunit and has been associated with inhibitory neuron...

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Identifiers

PMID: 40106582
DOI: 10.1126/scitranslmed.adn5603

Genes

SCN1A
DLX2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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