There are only 4 reports about the role of ATP1A2 gene in the pathogenesis of AHC [5–8]. The ATP1A2 missense mutations are known to be responsible for different types of familiar hemiplegic migraine.

Among them, pathogenic variants in ATP1A3 are responsible for almost 80% of cases. The aim of our study was to present a patient with de novo ATP1A2 mutation as the primary cause of AHC and to study ...

With the recent completion of the Perlegen–US National Institute of Environmental Health Sciences mouse resequencing project 1, which adds 8 million single nucleotide polymorphisms (SNPs) to the ...

1 Institute of Biochemistry and Cell Biology, National Research Council, Rome, Italy 2 Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children’s Hospital IRCCS, ...