Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.
Paradoxical hyperexcitability from NAV1.2 sodium channel loss in neocortical pyramidal cells.
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice.
CRISPR activation rescues abnormalities in SCN2A haploinsufficiency-associated autism spectrum disorder.
CRISPR activation for SCN2A-related neurodevelopmental disorders
Whole-exome sequencing identifies mutated C12ORF57 in recessive corpus callosum hypoplasia.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
CHD8 suppression impacts on histone h3 lysine 36 trimethylation and alters rna alternative splicing.
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
- Previous Page
- Viewing
- Next Page