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Neurol Genet. 2017 Mar 2;3(2):e139. doi: 10.1212/NXG.0000000000000139. eCollection 2017 Apr.

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

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Department of Pediatrics and Pediatric Neurology (H.R.), Georg August University, Göttingen, Germany; Division of Clinical Genetics (L.V.), Department of Pediatrics (T.N., M.T.S.) and Department of Neurology (M.T.S.), University of Utah, Salt Lake City; Center for Human Genetics (S.D.), University Hospitals and Case Western Reserve University, Cleveland, OH; Division of Pediatric Neurology (K.E.), Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN; Center for Human Genetics Research (L.O., M.M., K. Swoboda), Department of Neurology, Massachusetts General Hospital, Boston; Neurogenetics Unit (E.A.) and Epilepsy Research Group (E.A., F.A.), Montreal Neurological Hospital and Institute; Department of Neurology and Neurosurgery (E.A., F.A.), Department of Human Genetics (E.A.), and Department of Pediatrics (F.A.), McGill University, Quebec, Canada; Alternating Hemiplegia of Childhood Foundation (G.A., S.C., L.E., V.P.), Southfield, MI; BCBA (A. Belgrade), Belgrade Behavior Consulting, Chicago, IL; Department of Neurology (A. Brashear), Wake Forest School of Medicine, Winston-Salem, NC; Department of Pharmacology (A.L.G.), Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Pediatrics (A.L.), University of Florida College of Medicine, Jacksonville; Integrative Neuropsychology (J.M.), Fairlawn, OH; Association Française de l'Hémiplégie Alternante (D.P.), Paris, France; Rare Disease Innovation Unit (S.R.), Clinical Development Program, Biogen, Cambridge, MA; Department of Child Neurology (M.S.), National Center of Neurology and Psychiatry, Kodaira, Japan; Swedish Neuroscience Institute (M.S.d.M.), Swedish Medical Center, Seattle, WA; Department of Neurosurgery (K. Sweadner), Massachusetts General Hospital and Harvard Medical School, Boston; Neuroscience Institute (M.Z.), Children's Hospital of Orange County, CA; and Departments of Pediatrics and Neurology (K. Silver), University of Chicago and Comer Children's Hospital, Chicago, IL.



ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism.


In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders.


Workshop attendees were charged with the following: (1) to achieve consensus on expanded diagnostic criteria to facilitate the identification of additional patients, intended to supplement existing syndrome-specific diagnostic paradigms; (2) to standardize definitions for the broad range of paroxysmal manifestations associated with AHC to disseminate to families; (3) to create clinical recommendations for common recurrent issues facing families and medical care providers; (4) to review data related to the death of individuals in the Alternating Hemiplegia of Childhood Foundation database to guide future efforts in identifying at-risk subjects and potential preventative measures; and (5) to identify critical gaps where we most need to focus national and international research efforts.


This report summarizes recommendations of the workshop committee, highlighting the key phenotypic features to facilitate the diagnosis of possible ATP1A3 mutations, providing recommendations for genetic testing, and outlining initial acute management for common recurrent clinical conditions, including epilepsy.

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