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Article

Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy.

Biochimica et biophysica acta. Molecular basis of disease - 1 Jun 2024

Quinn Shir, Zhang Nan, Fenton Timothy A, Brusel Marina, Muruganandam Preethi, Peleg Yoav, Giladi Moshe, Haitin Yoni, Lerche Holger, Bassan Haim, Liu Yuanyuan, Ben-Shalom Roy, Rubinstein Moran

Abstract excerpt

Mutations in the SCN8A gene, encoding the voltage-gated sodium channel NaV1.6, are associated with a range of neurodevelopmental syndromes. The p.(Gly1625Arg) (G1625R) mutation was identified in a patient diagnosed with developmental epileptic encephalopathy (DEE). While most of the characterized DEE-associated SCN8A mutations were shown to cause a gain-of-channel function, we show that the G1625R variant,...

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PMID: 38519006
DOI: 10.1016/j.bbadis.2024.167127

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