The clarification of molecular pathology of alternating hemiplegia of childhood.

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Alternating hemiplegia of childhood (AHC) has an onset of an abnormal eye movement during the early years of life and paroxysmal hemiplegia in the first year and a half. In addition, AHC has associated symptoms that are epilepsy and a variety of involuntary movements. There are not specific examination findings and established treatments.Exome sequencing was performed for the 8 patients with typical AHC to identify a responsible gene. As a result, each patient harbored a heterozygous missense ATP1A3 mutation. These mutations were not found in their parents. We elucidated that a de novo heterozygous missense mutation in the ATP1A3 gene is a cause of AHC. In addition, we found out the significant correlation between phenotype and E815K mutation.