Epilepsy is one of the most common neurological disorders in humans with a prevalence of
1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal …

CRISPR–Cas9 editing shows promise for correcting disease-causing mutations. For
example, in a recent study we used CRISPR-Cas9 for sight restoration in blind rd1 mice by …

Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can
occur in otherwise healthy children after common viral infections such as influenza and …

Dandy-Walker malformation (DWM), the most common human cerebellar malformation, has
only one characterized associated locus 1 , 2 . Here we characterize a second DWM-linked …

Progressive myoclonus epilepsy (PME) is a syndrome characterized by myoclonic seizures (lightning-like
jerks), generalized convulsive seizures, and varying degrees of neurological …

Induced pluripotent stem cells (iPSCs) generated from patient fibroblasts could potentially
be used as a source of autologous cells for transplantation in retinal disease. Patient-derived …

Epilepsy is heritable, yet few causative gene mutations have been identified, and thus far no
human epilepsy gene mutations have been found to produce seizures in invertebrates. …

Neural tube defects (NTDs) represent a common group of severe congenital malformations
of the central nervous system. They result from failure of neural tube closure during early …

Background Folate metabolism pathway genes have been examined for association with
neural tube defects (NTDs) because folic acid supplementation reduces the risk of this …

… Association studies with three common silent single nucleotide polymorphisms,
rs12086448:A>G (p.Lys379Lys), rs17380127:A>C (p.Gly445Gly) and rs17380141: G>A (p.…