{"id":"https://openalex.org/W2290043631","doi":null,"title":"ATP1A3-Related Neurologic Disorders","display_name":"ATP1A3-Related Neurologic Disorders","publication_year":2014,"publication_date":"2014-11-06","ids":{"openalex":"https://openalex.org/W2290043631","mag":"2290043631"},"language":"en","primary_location":{"id":"mag:2290043631","doi":null,"is_oa":false,"landing_page_url":"https://europepmc.org/article/MED/20301294","pdf_url":null,"source":{"id":"https://openalex.org/S4306481946","display_name":"University of Washington, Seattle eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"ebook platform"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"University of Washington, Seattle eBooks","raw_type":null},"volume":null,"type":"book","indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5070982600","display_name":"Allison Brashear","orcid":"https://orcid.org/0000-0002-8812-7545","observed_orcids":["https://orcid.org/0000-0002-8812-7545"]},"institutions":[{"id":"https://openalex.org/I4405269449","display_name":"Wake Forest University Health Sciences","ror":"https://ror.org/046r1r105","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]},{"id":"https://openalex.org/I47251452","display_name":"Wake Forest University","ror":"https://ror.org/0207ad724","country_code":"US","type":"education","lineage":["https://openalex.org/I47251452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Allison Brashear","raw_affiliation_strings":["Professor and Chair, Department of Neurology, Wake Forest School of Medicine, Winston-Salem, North Carolina"],"raw_orcid":"https://orcid.org/0000-0002-8812-7545","affiliations":[{"raw_affiliation_string":"Professor and Chair, Department of Neurology, Wake Forest School of Medicine, Winston-Salem, North Carolina","institution_ids":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070466127","display_name":"Kathleen J. Sweadner","orcid":"https://orcid.org/0000-0002-2817-5262","observed_orcids":["https://orcid.org/0000-0002-2817-5262"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathleen J. Sweadner","raw_affiliation_strings":["Associate Professor of Cellular and Molecular Physiology, Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Associate Professor of Cellular and Molecular Physiology, Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090998737","display_name":"Jared Cook","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405269449","display_name":"Wake Forest University Health Sciences","ror":"https://ror.org/046r1r105","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]},{"id":"https://openalex.org/I47251452","display_name":"Wake Forest University","ror":"https://ror.org/0207ad724","country_code":"US","type":"education","lineage":["https://openalex.org/I47251452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jared Cook","raw_affiliation_strings":["Project Manager, Department of Neurology Wake Forest University School of Medicine Winston-Salem, North Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Project Manager, Department of Neurology Wake Forest University School of Medicine Winston-Salem, North Carolina","institution_ids":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074269053","display_name":"Kathryn J. Swoboda","orcid":"https://orcid.org/0000-0002-4593-6342","observed_orcids":["https://orcid.org/0000-0002-4593-6342"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathryn J. Swoboda","raw_affiliation_strings":["Director, Neurogenetics Unit, Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts"],"raw_orcid":"https://orcid.org/0000-0002-4593-6342","affiliations":[{"raw_affiliation_string":"Director, Neurogenetics Unit, Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5024118424","display_name":"Laurie J. Ozelius","orcid":"https://orcid.org/0000-0002-7820-1684","observed_orcids":["https://orcid.org/0000-0002-7820-1684"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laurie J. Ozelius","raw_affiliation_strings":["Associate Neuroscientist, Department of Neurology Massachusetts General Hospital Boston, Massachusetts"],"raw_orcid":"https://orcid.org/0000-0002-7820-1684","affiliations":[{"raw_affiliation_string":"Associate Neuroscientist, Department of Neurology Massachusetts General Hospital Boston, Massachusetts","institution_ids":["https://openalex.org/I4210087915"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.4737,"has_fulltext":false,"cited_by_count":29,"citation_normalized_percentile":{"value":0.52336449,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10919","display_name":"Neurological disorders and treatments","score":0.33180001378059387,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10919","display_name":"Neurological disorders and treatments","score":0.33180001378059387,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.21739999949932098,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.09589999914169312,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/atp1a3","display_name":"ATP1A3","score":0.9639999866485596},{"id":"https://openalex.org/keywords/rapid-onset-dystonia-parkinsonism","display_name":"rapid-onset dystonia-parkinsonism","score":0.9660000205039978},{"id":"https://openalex.org/keywords/alternating-hemiplegia-of-childhood","display_name":"alternating hemiplegia of childhood","score":1.0},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.6830000281333923},{"id":"https://openalex.org/keywords/episodic-movement-disorders","display_name":"episodic movement disorders","score":0.625},{"id":"https://openalex.org/keywords/ataxia","display_name":"ataxia","score":0.6209999918937683},{"id":"https://openalex.org/keywords/sensorineural-hearing-loss","display_name":"sensorineural hearing loss","score":0.7269999980926514},{"id":"https://openalex.org/keywords/optic-atrophy","display_name":"optic atrophy","score":0.718999981880188},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.47200000286102295}],"concepts":[{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.7890870571136475},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.6979333162307739},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.578656792640686},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.552513062953949},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.5285940170288086},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.43448567390441895},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.4075263738632202},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.36622488498687744},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.19131776690483093},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.18311169743537903},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.08366549015045166}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2290043631","doi":null,"is_oa":false,"landing_page_url":"https://europepmc.org/article/MED/20301294","pdf_url":null,"source":{"id":"https://openalex.org/S4306481946","display_name":"University of Washington, Seattle eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"ebook platform"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"University of Washington, Seattle eBooks","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8299999833106995}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":71,"referenced_works":["https://openalex.org/W1497270279","https://openalex.org/W1566134891","https://openalex.org/W1825064089","https://openalex.org/W1864383997","https://openalex.org/W1905863793","https://openalex.org/W1939617308","https://openalex.org/W1964866032","https://openalex.org/W1965035726","https://openalex.org/W1965731323","https://openalex.org/W1967608809","https://openalex.org/W1977102939","https://openalex.org/W1978199511","https://openalex.org/W1982504009","https://openalex.org/W1995443052","https://openalex.org/W1995839968","https://openalex.org/W1996250456","https://openalex.org/W1997949670","https://openalex.org/W2005377387","https://openalex.org/W2015210201","https://openalex.org/W2028430928","https://openalex.org/W2030084853","https://openalex.org/W2032851313","https://openalex.org/W2037314539","https://openalex.org/W2037879072","https://openalex.org/W2039192966","https://openalex.org/W2050262580","https://openalex.org/W2051921470","https://openalex.org/W2052270635","https://openalex.org/W2052772930","https://openalex.org/W2054806069","https://openalex.org/W2056990623","https://openalex.org/W2058388853","https://openalex.org/W2059156774","https://openalex.org/W2072020099","https://openalex.org/W2073337161","https://openalex.org/W2074394577","https://openalex.org/W2082376745","https://openalex.org/W2084509977","https://openalex.org/W2088175221","https://openalex.org/W2088801383","https://openalex.org/W2089665057","https://openalex.org/W2092227385","https://openalex.org/W2093537121","https://openalex.org/W2099082868","https://openalex.org/W2103125569","https://openalex.org/W2105326506","https://openalex.org/W2106658369","https://openalex.org/W2108214494","https://openalex.org/W2109264583","https://openalex.org/W2110657552","https://openalex.org/W2110998515","https://openalex.org/W2116672207","https://openalex.org/W2117327230","https://openalex.org/W2118678461","https://openalex.org/W2119106836","https://openalex.org/W2131134103","https://openalex.org/W2131541543","https://openalex.org/W2132608119","https://openalex.org/W2133940094","https://openalex.org/W2138120004","https://openalex.org/W2141207563","https://openalex.org/W2144354109","https://openalex.org/W2155931028","https://openalex.org/W2160785085","https://openalex.org/W2161888572","https://openalex.org/W2162589030","https://openalex.org/W2171869954","https://openalex.org/W2189590629","https://openalex.org/W2340553840","https://openalex.org/W2443703210","https://openalex.org/W6921523142"],"related_works":["https://openalex.org/W2059676269","https://openalex.org/W1920533399","https://openalex.org/W7096107430","https://openalex.org/W4247852252","https://openalex.org/W2314430465","https://openalex.org/W2776859522","https://openalex.org/W2346534562","https://openalex.org/W2416859113","https://openalex.org/W2793367425","https://openalex.org/W2189590629"],"abstract_inverted_index":{"Clinical":[0],"characteristics":[1],"ATP1A3-related":[3,335,718,788],"neurologic":[4,205,241,336,719,789],"disorders":[5,720],"represent":[6],"a":[7,50,142,169,190,303,358,399,470,608,654,702,743,750,792,825,828,842],"clinical":[8,345],"continuum":[9],"in":[10,197,256,267,340,362,483,512,723,765,815,850],"which":[11],"at":[12,805],"least":[13],"three":[14],"distinct":[15],"phenotypes":[16,47],"have":[17,45,140,156,656,778,847],"been":[18,70,157,183,657,779,848],"delineated:":[19],"rapid-onset":[20],"dystonia-parkinsonism":[21],"(RDP);":[22],"alternating":[23,208],"hemiplegia":[24],"of":[25,60,75,100,116,135,146,160,172,229,259,295,320,333,347,357,368,372,384,459,477,500,527,635,637,641,651,670,695,700,752,783,795,822],"childhood":[26,170,201],"(ACH);":[27],"and":[28,36,85,91,154,179,215,234,250,252,286,301,312,323,381,406,413,439,473,487,515,530,535,537,698,768,773],"cerebellar":[29],"ataxia,":[30,246,280,412],"areflexia,":[31,281],"pes":[32,282],"cavus,":[33,283],"optic":[34,284],"atrophy,":[35,285],"sensorineural":[37,287],"hearing":[38,288,375],"loss":[39],"(CAPOS).":[40],"However,":[41],"some":[42],"affected":[43,138],"individuals":[44,139,484,520,839],"intermediate":[46],"or":[48,93,110,199,210,225,350,386,422,436,447,579,591,600,734],"only":[49],"few":[51,104],"features":[52,346],"that":[53,425,490,673],"do":[54],"not":[55,747],"fit":[56],"well":[57],"into":[58],"one":[59],"these":[61],"major":[62],"phenotypes.":[63],"RDP":[68,173,486,645,767],"has":[69,182,791],"characterized":[71,292],"by:":[72],"abrupt":[73,133],"onset":[74,115,145,161,175],"dystonia":[76,504],"over":[77,148],"days":[78],"to":[79,96,150,165,269,419,492,509,544,660,667,682,688,740],"weeks":[80,149],"with":[81,103,125,132,174,202,232,343,390,394,432,444,485,644,686,786,827,852],"parkinsonism":[82],"(primarily":[83],"bradykinesia":[84],"postural":[86],"instability);":[87],"common":[88],"bulbar":[89],"involvement;":[90],"absence":[92],"minimal":[94],"response":[95],"an":[97,334,341,689,724,784,787],"adequate":[98],"trial":[99,476],"L-dopa":[101],"therapy,":[102,403,405],"exceptions.":[105],"Often":[106],"fever,":[107,555],"physiologic":[108],"stress,":[109],"alcoholic":[111],"binges":[112],"trigger":[113,655],"the":[114,257,344,355,513,525,633,665,668,680,683,696,797,811,816],"symptoms.":[117,136],"After":[118],"their":[119,270],"initial":[120,741],"appearance,":[121],"symptoms":[122,147,230,317,539,636],"often":[123,677],"stabilize":[124],"little":[126],"improvement;":[127],"occasionally":[128],"second":[129],"episodes":[130,294,465],"occur":[131,735],"worsening":[134],"Rarely,":[137],"reported":[141,849],"more":[143,262,759],"gradual":[144],"months.":[151],"Anxiety,":[152],"depression,":[153],"seizures":[155,533],"reported.":[158,184],"Age":[159],"ranges":[162],"from":[163],"four":[164,313],"55":[166],"years,":[167],"although":[168],"variation":[171],"between":[176,308],"ages":[177,309],"nine":[178],"14":[180],"months":[181,311],"AHC":[188,464],"is":[189,291,307,338,505,646,676,746,808,818],"complex":[191],"neurodevelopmental":[192],"syndrome":[193,290,352,770],"most":[194],"frequently":[195],"manifesting":[196],"infancy":[198],"early":[200],"paroxysmal":[203],"episodic":[204,271],"dysfunction":[206,254],"including":[207,243,553,567],"hemiparesis":[209],"dystonia,":[211,248],"quadriparesis,":[212],"seizure-like":[213],"episodes,":[214],"oculomotor":[216,244],"abnormalities.":[217],"Episodes":[218],"can":[219,429],"last":[220],"for":[221,388,409,442,451,463,524,632,749,803],"minutes,":[222],"hours,":[223],"days,":[224],"even":[226],"weeks.":[227],"Remission":[228],"occurs":[231],"sleep":[233,391,606],"immediately":[235],"after":[236,302],"awakening.":[237],"Over":[238],"time,":[239],"persistent":[240],"deficits":[242],"apraxia,":[245],"choreoathetosis,":[247],"parkinsonism,":[249],"cognitive":[251],"behavioral":[253],"develop":[255,265],"majority":[258],"those":[260,389,443],"affected;":[261],"than":[263,679,763],"50%":[264,793],"epilepsy":[266],"addition":[268],"movement":[272],"disorder":[273,337,446,790],"phenotype.":[274],"CAPOS":[278,351,531,615,769],"(cerebellar":[279],"loss)":[289],"by":[293,354],"ataxic":[296],"encephalopathy":[297],"and/or":[298,353],"weakness":[299],"during":[300,706],"febrile":[304],"illness.":[305],"Onset":[306],"six":[310],"years.":[314],"Some":[315],"acute":[316,493],"resolve;":[318],"progression":[319],"sensory":[321],"losses":[322],"severity":[324],"vary.":[325],"Diagnosis/testing":[330],"Diagnosis":[332],"established":[339],"individual":[342,785],"RDP,":[348],"AHC,":[349,755],"identification":[356],"heterozygous":[359,843],"pathogenic":[360,729,756,776,799,813,831,845],"variant":[361,814,832,846],"ATP1A3.":[363],"Management":[365],"Treatment":[367],"manifestations:":[369,461],"Standard":[370],"treatment":[371],"visual":[373],"disturbance,":[374],"loss,":[376],"seizure":[377,692],"disorders,":[378],"cardiac":[379],"arrhythmia,":[380],"cardiomyopathy.":[382],"Consideration":[383],"CPAP":[385],"BiPAP":[387],"apnea.":[392],"Those":[393],"severe":[395],"dysphagia":[396,528],"may":[397,417,466,480,663,731],"require":[398],"gastrostomy":[400],"tube.":[401],"Physical":[402],"occupational":[404],"speech":[407],"therapy":[408,508],"motor":[410],"dysfunction,":[411],"dysarthria.":[414],"Acute":[415],"spasms":[416],"respond":[418],"chloral":[420],"hydrate":[421],"other":[423],"medication":[424,662,705],"induces":[426],"sleep.":[427,474],"Dystonia":[428],"be":[430,481,496,522,630,732],"treated":[431],"benzodiazepines,":[433],"dopamine":[434],"agonists,":[435],"levo-dopa.":[437],"Psychotherapy":[438],"standard":[440],"pharmacotherapy":[441],"mood":[445],"psychosis.":[448],"Early":[449],"referral":[450],"developmental":[452],"support":[453],"/":[454,570],"special":[455],"education.":[456],"Prevention":[458,499],"primary":[460],"Prophylaxis":[462],"include":[467],"flunarizine,":[468],"topiramate,":[469],"ketogenic":[471],"diet,":[472],"A":[475],"high-dose":[478],"benzodiazepines":[479],"considered":[482],"AHC.":[488,565],"Triggers":[489,552,566],"lead":[491],"attacks":[494],"should":[495,521,629,708],"avoided.":[497],"secondary":[501],"complications:":[502],"When":[503],"present,":[506],"physical":[507],"prevent":[510],"contractures":[511],"hands":[514],"feet.":[516],"Surveillance.":[518],"Affected":[519,626],"monitored":[523,631],"development":[526,634],"(RDP":[529,534],"syndrome),":[532],"AHC),":[536],"psychiatric":[538],"(RDP).":[540],"Agents/circumstances":[543],"avoid:":[545],"RDP.":[551,638,753,853],"alcohol,":[554],"psychological":[556,568],"stress":[557,569],"(e.g.,":[558,574,586,593],"childbirth),":[559],"excessive":[560,577,581,599],"exercise.":[561],"excitement;":[571],"environmental":[572],"stressors":[573],"bright":[575],"light,":[576],"heat":[578],"cold,":[580],"sound,":[582],"crowds);":[583],"water":[584],"exposure":[585,687],"bathing,":[587],"swimming);":[588],"certain":[589],"foods":[590],"odors":[592],"chocolate,":[594],"food":[595],"dyes);":[596],"missed":[597],"meals;":[598],"atypically":[601],"strenuous":[602],"exercise;":[603],"illness;":[604],"irregular":[605],"(missing":[607],"nap,":[609],"delayed":[610],"bedtime).":[611],"syndrome.":[616],"Febrile":[617],"illness,":[618],"pregnancy.":[619],"Pregnancy":[624],"management:":[625],"pregnant":[627,642],"women":[628,643],"The":[639,820],"number":[640],"small,":[647],"but":[648],"several":[649],"reports":[650,742],"childbirth":[652],"as":[653],"noted.":[658],"Exposure":[659],"anti-seizure":[661,704],"increase":[664],"risk":[666,681,807],"fetus":[669,684],"adverse":[671],"outcome;":[672],"risk,":[674],"however,":[675],"less":[678],"associated":[685],"untreated":[690],"maternal":[691],"disorder.":[693],"Discussion":[694],"risks":[697],"benefits":[699],"using":[701],"given":[703],"pregnancy":[707],"ideally":[709],"take":[710],"place":[711],"before":[712],"conception.":[713],"Genetic":[715],"counseling":[716],"are":[721,758],"inherited":[722,733,772],"autosomal":[725],"dominant":[726],"manner.":[727],"ATP1A3":[728,798,812,830,844],"variants":[730,757,777],"de":[736,761,774],"novo.":[737],"In":[738,754],"contrast":[739],"familial":[744],"history":[745],"required":[748],"diagnosis":[751],"commonly":[760],"novo":[762,775],"inherited;":[764],"both":[766,771],"observed.":[780],"Each":[781],"child":[782],"chance":[794],"inheriting":[796],"variant.":[800],"Prenatal":[801],"testing":[802],"pregnancies":[804],"increased":[806],"possible":[809],"if":[810],"family":[817,826],"known.":[819],"variability":[821],"presentation":[823],"within":[824],"known":[829],"further":[833],"complicates":[834],"genetic":[835],"counseling.":[836],"Lifelong":[837],"asymptomatic":[838],"who":[840],"harbor":[841],"families":[851]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":3},{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2016-06-24T00:00:00"}