PT  - JOURNAL ARTICLE
AU  - Hendrik Rosewich
AU  - Matthew T. Sweney
AU  - Suzanne DeBrosse
AU  - Kevin Ess
AU  - Laurie Ozelius
AU  - Eva Andermann
AU  - Frederick Andermann
AU  - Gene Andrasco
AU  - Alice Belgrade
AU  - Allison Brashear
AU  - Sharon Ciccodicola
AU  - Lynn Egan
AU  - Alfred L. George, Jr
AU  - Aga Lewelt
AU  - Joshua Magelby
AU  - Mario Merida
AU  - Tara Newcomb
AU  - Vicky Platt
AU  - Dominic Poncelin
AU  - Sandra Reyna
AU  - Masayuki Sasaki
AU  - Marcio Sotero de Menezes
AU  - Kathleen Sweadner
AU  - Louis Viollet
AU  - Mary Zupanc
AU  - Kenneth Silver
AU  - Kathryn Swoboda
TI  - Research conference summary from the 2014 International Task Force on <em>ATP1A3</em>-Related Disorders
AID  - 10.1212/NXG.0000000000000139
DP  - 2017 Apr 01
TA  - Neurology Genetics
PG  - e139
VI  - 3
IP  - 2
4099  - http://ng.neurology.org/content/3/2/e139.short
4100  - http://ng.neurology.org/content/3/2/e139.full
SO  - Neurol Genet2017 Apr 01; 3
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