Progress in Understanding and Treating SCN2A-Mediated Disorders.
Trends Neurosci
; 41(7): 442-456, 2018 07.
Article
em En
| MEDLINE
| ID: mdl-29691040
ABSTRACT
Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. SCN2A encodes the neuronal sodium channel NaV1.2. Functional assays demonstrate strong correlation between genotype and phenotype. This insight can help guide therapeutic decisions and raises the possibility that ligands that selectively enhance or diminish channel function may improve symptoms. The well-defined function of sodium channels makes SCN2A an important test case for investigating the neurobiology of neurodevelopmental disorders more generally. Here, we discuss the progress made, through the concerted efforts of a diverse group of academic and industry scientists as well as policy advocates, in understanding and treating SCN2A-related disorders.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Canal de Sódio Disparado por Voltagem NAV1.2
/
Transtornos do Neurodesenvolvimento
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Trends Neurosci
Ano de publicação:
2018
Tipo de documento:
Article