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Article

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.

Molecular genetics & genomic medicine - 1 May 2022

Mangano Giuseppe Donato, Fontana Antonina, Antona Vincenzo, Salpietro Vincenzo, Mangano Giuseppa Renata, Giuffrè Mario, Nardello Rosaria

Abstract excerpt

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 neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same...

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Autism Spectrum Disorder
Epilepsy
Intellectual Disability
NAV1.2 Voltage-Gated Sodium Channel
NAV1.6 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neurodevelopmental Disorders

Observational Studies as Topic

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PMID: 35348308
DOI: 10.1002/mgg3.1911
PMCID: PMC9034667

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