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Article

Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy.

Journal of neurochemistry - 1 Dec 2024

Jia Linghan, Li Melody, Pachernegg Svenja, Sedo Alicia, Jancovski Nikola, Burbano Lisseth Estefania, Dalby Kelley, Nemiroff Alex, Reid Christopher, Maljevic Snezana, Petrou Steven

Abstract excerpt

De novo variants in the NaV1.2 voltage-gated sodium channel gene SCN2A are among the major causes of developmental and epileptic encephalopathies (DEE). Based on their biophysical impact on channel conductance and gating, SCN2A DEE variants can be classified into gain-of-function (GoF) or loss-of-function (LoF). Clinical and functional data have linked early seizure onset DEE to the GoF SCN2A variants, whereas...

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Identifiers

PMID: 38544375
DOI: 10.1111/jnc.16103

Genes

SCN2A

Variants

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