RT Journal Article SR Electronic T1 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders JF Neurology Genetics JO Neurol Genet FD Lippincott Williams & Wilkins SP e139 DO 10.1212/NXG.0000000000000139 VO 3 IS 2 A1 Hendrik Rosewich A1 Matthew T. Sweney A1 Suzanne DeBrosse A1 Kevin Ess A1 Laurie Ozelius A1 Eva Andermann A1 Frederick Andermann A1 Gene Andrasco A1 Alice Belgrade A1 Allison Brashear A1 Sharon Ciccodicola A1 Lynn Egan A1 Alfred L. George, Jr A1 Aga Lewelt A1 Joshua Magelby A1 Mario Merida A1 Tara Newcomb A1 Vicky Platt A1 Dominic Poncelin A1 Sandra Reyna A1 Masayuki Sasaki A1 Marcio Sotero de Menezes A1 Kathleen Sweadner A1 Louis Viollet A1 Mary Zupanc A1 Kenneth Silver A1 Kathryn Swoboda YR 2017 UL http://ng.neurology.org/content/3/2/e139.abstract AB Objective: 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.Methods: 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.Results: 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.Conclusions: 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.AHC=alternating hemiplegia of childhood; AHCF=Alternating Hemiplegia of Childhood Foundation; CAPOS=cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; NGS=next-generation sequencing; RDP=rapid-onset dystonia parkinsonism; SUDEP=sudden unexpected death in epilepsy; WES=whole-exome sequencing