Autor: Qi Yang
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NSF gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features
BackgroundDevelopmental and epileptic encephalopathy 96 (DEE96, OMIM 619340) is a rare autosomal dominant disorder caused by heterozygous variants in the NSF gene, encoding a key AAA + ATPase involved in SNARE-mediated membrane fusion. To date, only fo…