European Network for Research on Alternating Hemiplegia
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ATP1A3 gene discovery
New research
Global AHC research » ATP1A3 gene discovery
In 2012, several labs (Heinzen et al, Rosewich et al, Genome Diagnostics Nijmegen and Ishii et al) used next-generation sequencing (NGS) to screen for de novo mutations in AHC patients and identified missense mutations in the ATP1A3 gene in the majority of these cases.

Heterozygous missense mutations in the ATP1A3 gene have also been identified as the cause of two other rare neurological diseases , Rapid-onset Dystonia-Parkinsonism, RDP (also called dystonia-12) and CAPOS (Cerebellar Ataxia, areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) syndrome.

Following up the discovery of the ATP1A3 mutations in AHC patients, ENRAH and Duke University initiated  the Symposiums   ATP1A3 in Disease  . The First Symposium  with 66 participants took place in Brussels , 10-11 December 2012. See the  Program   

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