A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients
Daniel G. Calame, Kimberly Houck, Timothy Lotze, Lisa Emrick, Mered Parnes
Topics & Concepts
EpilepsyStepwise regressionRegressionMedicinePhysical medicine and rehabilitationMovement disordersPsychologyPediatricsInternal medicinePsychiatryPsychotherapistDiseaseMetabolism and Genetic DisordersIon Transport and Channel RegulationMitochondrial Function and Pathology