SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features

SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features

Pathogenic variants of the <i>SCN2A</i> gene (MIM 182390) are associated with several epileptic syndromes ranging from benign familial neonatal-infantile seizures (BFNIS) to early infantile epileptic encephalopathy. The aim of this work was to describe clinical features among five patien...

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Bibliographic Details
Main Authors: Roberta Epifanio, Roberto Giorda, Maria Carolina Merlano, Nicoletta Zanotta, Romina Romaniello, Susan Marelli, Silvia Russo, Francesca Cogliati, Maria Teresa Bassi, Claudio Zucca
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Brain Sciences
Subjects:
genetics
epilepsy
<i>SCN2A</i> gene
autistic spectrum disorder
epileptic encephalopathy
Online Access:https://www.mdpi.com/2076-3425/12/1/18

Internet

https://www.mdpi.com/2076-3425/12/1/18

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