Associated Papers
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E et al.
European Journal of Human Genetics : Ejhg, 2024
Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.
Moya-Mendez ME et al.
Epilepsy & Behavior : E&b, 2021
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.
Calame DG et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
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