Article
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome.
Cerebral cortex (New York, N.Y. : 1991) - 8 Aug 2023
Lenge Matteo, Balestrini Simona, Mei Davide, Macconi Letizia, Caligiuri Maria Eugenia, Cuccarini Valeria, Aquino Domenico, Mazzi Federica, d'Incerti Ludovico, Darra Francesca, Bernardina Bernardo Dalla, Guerrini Renzo
Abstract excerpt
Mutations of the voltage-gated sodium channel SCN1A gene (MIM#182389) are among the most clinically relevant epilepsy-related genetic mutations and present variable phenotypes, from the milder genetic epilepsy with febrile seizures plus to Dravet syndrome, a severe developmental and epileptic encephalopathy. Qualitative neuroimaging studies have identified malformations of cortical development in some patients...
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