Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.

Marianna AlagiaPia BernardoRita GenesioElena GennaroNicola Brunetti-PierriAntonietta CoppolaFederico ZaraPasquale StrianoSalvatore StrianoGaetano Terrone

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)

Keyphrases

early onset
genome wide
copy number
genome wide identification
wild type
gene expression