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.

Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome / Matteo Lenge , Simona Balestrini , Davide Mei , Letizia Macconi , Maria Eugenia Caligiuri , Valeria Cuccarini , Domenico Aquino , Federica Mazzi , Ludovico d'Incerti , Francesca Darra , Bernardo Dalla Bernardina , Renzo Guerrini. - In: CEREBRAL CORTEX. - ISSN 1047-3211. - ELETTRONICO. - 33:(2023), pp. 16.9532-16.9541. [10.1093/cercor/bhad224]

Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome

Matteo Lenge;Simona Balestrini;Davide Mei;Letizia Macconi;Federica Mazzi;Renzo Guerrini
2023

Abstract

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.
2023
33
9532
9541
Matteo Lenge , Simona Balestrini , Davide Mei , Letizia Macconi , Maria Eugenia Caligiuri , Valeria Cuccarini , Domenico Aquino , Federica Mazzi , Ludovico d'Incerti , Francesca Darra , Bernardo Dalla Bernardina , Renzo Guerrini
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1328246
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