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

• Published in: Molecular genetics & genomic medicine Vol. 10; no. 5; pp. e1911 - n/a
• Main Authors: Mangano, Giuseppe Donato, Fontana, Antonina, Antona, Vincenzo, Salpietro, Vincenzo, Mangano, Giuseppa Renata, Giuffrè, Mario, Nardello, Rosaria
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.05.2022; John Wiley and Sons Inc; Wiley
• Subjects: Age; Autism; Autism Spectrum Disorder - genetics; autism spectrum disorders; Channels; Clinical Report; Clinical Reports; Convulsions & seizures; Disorders; EEG; Epilepsy; Epilepsy - genetics; Genetic diversity; Genetic variance; Genotype & phenotype; Humans; Intellectual disabilities; intellectual disability; Intellectual Disability - genetics; Literature reviews; Memory; Mutation; NAV1.2 Voltage-Gated Sodium Channel - genetics; NAV1.6 Voltage-Gated Sodium Channel - genetics; Neurodevelopmental disorders; Neurodevelopmental Disorders - genetics; Neuropsychology; Observational studies; Observational Studies as Topic; Patients; Phenotype; Phenotypes; SCN2A; SCN8A; Sodium channels (voltage-gated); Standard scores; whole‐exome sequencing; Italy; epilepsy; EEG; SCN8A; autism spectrum disorders; SCN2A; whole-exome sequencing; intellectual disability
• ISSN: 2324-9269; 2324-9269
• DOI: 10.1002/mgg3.1911

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...