Cargando…
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review
This study was aimed to analyze the commonalities and distinctions of voltage‐gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsy...
Autores principales: | Mangano, Giuseppe Donato, Fontana, Antonina, Antona, Vincenzo, Salpietro, Vincenzo, Mangano, Giuseppa Renata, Giuffrè, Mario, Nardello, Rosaria |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034667/ https://www.ncbi.nlm.nih.gov/pubmed/35348308 http://dx.doi.org/10.1002/mgg3.1911 |
Ejemplares similares
-
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
por: Nardello, Rosaria, et al.
Publicado: (2021) -
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant
por: Nardello, Rosaria, et al.
Publicado: (2020) -
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?
por: Mangano, Salvatore, et al.
Publicado: (2013) -
Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes
por: de Lange, Iris M., et al.
Publicado: (2019) -
Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease
por: Wong, Jennifer C., et al.
Publicado: (2021)