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

Pathogenic variants of the SCN2A 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 patients with concomitant...

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Detalles Bibliográficos
Autores principales: Epifanio, Roberta, Giorda, Roberto, Merlano, Maria Carolina, Zanotta, Nicoletta, Romaniello, Romina, Marelli, Susan, Russo, Silvia, Cogliati, Francesca, Bassi, Maria Teresa, Zucca, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773615/
https://www.ncbi.nlm.nih.gov/pubmed/35053762
http://dx.doi.org/10.3390/brainsci12010018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773615/
https://www.ncbi.nlm.nih.gov/pubmed/35053762
http://dx.doi.org/10.3390/brainsci12010018

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