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Paper Details

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Brain
1
2023
ATP1A3, ATP1A3 variants, ATP1A3(NM_152296, ATP1A3-related disorder, CAPOS, P775L, Pro775Leu, alternating hemiplegia of childhood, c.2324C, cavus-optic atrophy, cerebellar ataxia-areflexia-pes, developmental delay, dystonia-parkinsonism, idiopathic spastic cerebral palsy, intellectual disability, ion transport diseases, neurological syndromes, neurons, patients, potassium, sensorineural hearing loss, sodium, sodium-potassium ATPase, spastic paraplegia, spasticity
Author NameAffiliation
Seth I BergerChildren's National Rare Disease Institute, Children's National Hospital
Julie S CohenKennedy Krieger Institute
Julie S CohenJohns Hopkins University School of Medicine
Tomi PastinenChildren's Mercy Research Institute
Tomi PastinenUniversity of Missouri Kansas City
Saskia Biskup
Saskia Biskup
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
Dragan MaricNational Institute of Neurological Disorders and Stroke, National Institutes of Health
Dragan MaricNational Institute of Neurological Disorders and Stroke, National Institutes of Health
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Release 1.2