A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant

Mutations of the ATP1A3 gene are associated with a wide spectrum of neurological disorders including rapid onset dystonia-parkinsonism and alternating hemiplegia of childhood (AHC). The genotype-phenotype correlations in these cases remain unclear however. We here report a pediatric case of catastrophic early life epilepsy, respiratory failure, postnatal microcephaly, and severe developmental disability associated with a novel heterozygous ATP1A3 mutation.

Source: Brain and Development - November 1, 2018 Category: Neurology Authors: Naoko Ishihara, Hidehito Inagaki, Misa Miyake, Yoshiki Kawamura, Tetsushi Yoshikawa, Hiroki Kurahashi Tags: Case Report Source Type: research