Biallelic Parkin (PARK2) mutations can cause a bvFTD phenotype without clinically relevant parkinsonism.

De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.

Comparative characterization of human induced pluripotent stem cells (hiPSC) derived from patients with schizophrenia and autism.

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.