{"id":"https://openalex.org/W3000653518","doi":"https://doi.org/10.1111/epi.16386","title":"SCN1A\u2010related phenotypes: Epilepsy and beyond","display_name":"SCN1A\u2010related phenotypes: Epilepsy and beyond","publication_year":2019,"publication_date":"2019-12-01","ids":{"openalex":"https://openalex.org/W3000653518","doi":"https://doi.org/10.1111/epi.16386","mag":"3000653518","pmid":"https://pubmed.ncbi.nlm.nih.gov/31904117"},"language":"en","primary_location":{"id":"doi:10.1111/epi.16386","doi":"https://doi.org/10.1111/epi.16386","is_oa":true,"landing_page_url":"https://doi.org/10.1111/epi.16386","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/epi.16386","source":{"id":"https://openalex.org/S203153751","display_name":"Epilepsia","issn_l":"0013-9580","issn":["0013-9580","1528-1157","1528-1167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Epilepsia","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/epi.16386","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5041159807","display_name":"Ingrid Eileen Scheffer","orcid":"https://orcid.org/0000-0002-2311-2174","observed_orcids":["https://orcid.org/0000-0002-2311-2174"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210163497","display_name":"Austin Health","ror":"https://ror.org/05dbj6g52","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210163497"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Ingrid E. Scheffer","raw_affiliation_strings":["Departments of Medicine and Paediatrics, Austin Health and Royal Children's Hospital, Florey and Murdoch Children's Research Institute, The University of Melbourne, Melbourne, VIC, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Paediatrics, Austin Health and Royal Children's Hospital, Florey and Murdoch Children's Research Institute, The University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210150290","https://openalex.org/I4210163497"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5008350546","display_name":"Rima Nabbout","orcid":"https://orcid.org/0000-0001-5877-4074","observed_orcids":["https://orcid.org/0000-0001-5877-4074"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210086369","display_name":"Institut Necker Enfants Malades","ror":"https://ror.org/000nhq538","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210086369","https://openalex.org/I4210096427"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Rima Nabbout","raw_affiliation_strings":["Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute U1163, Paris Descartes University, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute U1163, Paris Descartes University, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210086369","https://openalex.org/I4210165077","https://openalex.org/I4387156284"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5008350546"],"corresponding_institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210086369","https://openalex.org/I4210165077","https://openalex.org/I4387156284"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":3.5038,"has_fulltext":true,"cited_by_count":258,"citation_normalized_percentile":{"value":0.96134283,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"60","issue":"S3","first_page":"S17","last_page":"S24"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9887999892234802,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical 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/T10094","display_name":"Epilepsy research and treatment","score":0.9887999892234802,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical 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/T10493","display_name":"Ion channel regulation and function","score":0.009700000286102295,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12229","display_name":"Pharmacological Effects and Toxicity Studies","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/scn1a","display_name":"SCN1A","score":0.9980000257492065},{"id":"https://openalex.org/keywords/nav1-1-sodium-channel","display_name":"Nav1.1 sodium channel","score":0.8820000290870667},{"id":"https://openalex.org/keywords/dravet-syndrome","display_name":"Dravet syndrome","score":0.9829999804496765},{"id":"https://openalex.org/keywords/developmental-and-epileptic-encephalopathy","display_name":"developmental and epileptic encephalopathy","score":0.9160000085830688},{"id":"https://openalex.org/keywords/genetic-epilepsy-with-febrile-seizures-plus","display_name":"genetic epilepsy with febrile seizures plus","score":0.9629999995231628},{"id":"https://openalex.org/keywords/hemiplegic-migraine","display_name":"hemiplegic migraine","score":0.9769999980926514},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.9850000143051147},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.8560000061988831},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.722000002861023},{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.8980000019073486},{"id":"https://openalex.org/keywords/drug-resistant-epilepsy","display_name":"drug-resistant epilepsy","score":0.8339999914169312},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9079999923706055},{"id":"https://openalex.org/keywords/phenotypic-spectrum","display_name":"phenotypic spectrum","score":0.7519999742507935},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.4490000009536743},{"id":"https://openalex.org/keywords/scn2a","display_name":"SCN2A","score":0.49000000953674316}],"concepts":[{"id":"https://openalex.org/C2780623815","wikidata":"https://www.wikidata.org/wiki/Q1255956","display_name":"Dravet syndrome","level":3,"score":0.9198430776596069},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.773758590221405},{"id":"https://openalex.org/C2778042195","wikidata":"https://www.wikidata.org/wiki/Q3312899","display_name":"Familial hemiplegic migraine","level":5,"score":0.7132763862609863},{"id":"https://openalex.org/C2777350023","wikidata":"https://www.wikidata.org/wiki/Q1154226","display_name":"Aura","level":3,"score":0.7114989757537842},{"id":"https://openalex.org/C2778541695","wikidata":"https://www.wikidata.org/wiki/Q133823","display_name":"Migraine","level":2,"score":0.6009442210197449},{"id":"https://openalex.org/C2776497919","wikidata":"https://www.wikidata.org/wiki/Q739481","display_name":"Migraine with aura","level":4,"score":0.5902040600776672},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.5403182506561279},{"id":"https://openalex.org/C2778734009","wikidata":"https://www.wikidata.org/wiki/Q55785625","display_name":"Epilepsy syndromes","level":3,"score":0.5018174648284912},{"id":"https://openalex.org/C16568411","wikidata":"https://www.wikidata.org/wiki/Q83042","display_name":"Neurology","level":2,"score":0.49651771783828735},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.48729097843170166},{"id":"https://openalex.org/C2777989426","wikidata":"https://www.wikidata.org/wiki/Q2936142","display_name":"Channelopathy","level":2,"score":0.4835469424724579},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.43771880865097046},{"id":"https://openalex.org/C2777341932","wikidata":"https://www.wikidata.org/wiki/Q980709","display_name":"Status epilepticus","level":3,"score":0.43201425671577454},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.38245946168899536},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3570253252983093},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.23740118741989136}],"mesh":[{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000073376","descriptor_name":"Epileptic Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003294","descriptor_name":"Seizures, Febrile","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004831","descriptor_name":"Epilepsies, Myoclonic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D062550","descriptor_name":"NAV1.1 Voltage-Gated Sodium Channel","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1111/epi.16386","doi":"https://doi.org/10.1111/epi.16386","is_oa":true,"landing_page_url":"https://doi.org/10.1111/epi.16386","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/epi.16386","source":{"id":"https://openalex.org/S203153751","display_name":"Epilepsia","issn_l":"0013-9580","issn":["0013-9580","1528-1157","1528-1167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Epilepsia","raw_type":"journal-article"},{"id":"pmid:31904117","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31904117","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Epilepsia","raw_type":"Journal Article"},{"id":"pmh:oai:jupiter.its.unimelb.edu.au:11343/286685","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11343/286685","pdf_url":null,"source":{"id":"https://openalex.org/S4377196259","display_name":"Minerva Access (University of Melbourne)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I165779595","host_organization_name":"The University of Melbourne","host_organization_lineage":["https://openalex.org/I165779595"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1111/epi.16386","doi":"https://doi.org/10.1111/epi.16386","is_oa":true,"landing_page_url":"https://doi.org/10.1111/epi.16386","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/epi.16386","source":{"id":"https://openalex.org/S203153751","display_name":"Epilepsia","issn_l":"0013-9580","issn":["0013-9580","1528-1157","1528-1167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Epilepsia","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3000653518.pdf","grobid_xml":"https://content.openalex.org/works/W3000653518.grobid-xml"},"referenced_works_count":66,"referenced_works":["https://openalex.org/W183740869","https://openalex.org/W1480442999","https://openalex.org/W1500569882","https://openalex.org/W1549808427","https://openalex.org/W1564863670","https://openalex.org/W1590401753","https://openalex.org/W1592034102","https://openalex.org/W1597950071","https://openalex.org/W1964533239","https://openalex.org/W1971084670","https://openalex.org/W1971089821","https://openalex.org/W1997765371","https://openalex.org/W2001465365","https://openalex.org/W2006833313","https://openalex.org/W2012966993","https://openalex.org/W2018267617","https://openalex.org/W2029204124","https://openalex.org/W2034651748","https://openalex.org/W2058444388","https://openalex.org/W2089702499","https://openalex.org/W2093085526","https://openalex.org/W2093309387","https://openalex.org/W2096181241","https://openalex.org/W2097891845","https://openalex.org/W2101485524","https://openalex.org/W2102461063","https://openalex.org/W2122708962","https://openalex.org/W2127634492","https://openalex.org/W2128780156","https://openalex.org/W2133683434","https://openalex.org/W2136509920","https://openalex.org/W2140968331","https://openalex.org/W2154765421","https://openalex.org/W2157195207","https://openalex.org/W2157702138","https://openalex.org/W2159213224","https://openalex.org/W2160249533","https://openalex.org/W2167285873","https://openalex.org/W2188528468","https://openalex.org/W2237739219","https://openalex.org/W2257198171","https://openalex.org/W2320453121","https://openalex.org/W2338208255","https://openalex.org/W2513406030","https://openalex.org/W2576230061","https://openalex.org/W2586477905","https://openalex.org/W2587877487","https://openalex.org/W2732804856","https://openalex.org/W2733711165","https://openalex.org/W2736365965","https://openalex.org/W2745227041","https://openalex.org/W2749242594","https://openalex.org/W2761862301","https://openalex.org/W2766832340","https://openalex.org/W2767441342","https://openalex.org/W2795060168","https://openalex.org/W2803076988","https://openalex.org/W2807765515","https://openalex.org/W2898771965","https://openalex.org/W2904891280","https://openalex.org/W2904961990","https://openalex.org/W2915550239","https://openalex.org/W2920452733","https://openalex.org/W2970042325","https://openalex.org/W4248786607","https://openalex.org/W7074142302"],"related_works":["https://openalex.org/W4322719202","https://openalex.org/W4311244827","https://openalex.org/W4200550822","https://openalex.org/W7216266014","https://openalex.org/W2027442289","https://openalex.org/W4282598224","https://openalex.org/W4280636377","https://openalex.org/W981212865","https://openalex.org/W1986166332","https://openalex.org/W2026551310"],"abstract_inverted_index":{"Abstract":[0],"SCN1A,":[1],"encoding":[2],"the":[3,8,25,71,109,137,172,202,209,224,240,245],"alpha":[4],"1":[5],"subunit":[6],"of":[7,20,34,78,90,112,156,196,204,208,223,233,235,242,244,260,262],"sodium":[9],"channel,":[10],"is":[11,70,106,125,158,192],"associated":[12,28],"with":[13,29,40,74,117,160,198,264,275],"several":[14],"epilepsy":[15,39],"syndromes":[16],"and":[17,47,62,87,96,127,166,186,250,278],"a":[18,30,161,193,231],"range":[19],"other":[21,56,279],"diseases.":[22],"SCN1A":[23,51,213,249],"represents":[24],"archetypal":[26],"channelopathy":[27],"wide":[31],"phenotypic":[32],"spectrum":[33,64],"epilepsies":[35],"ranging":[36],"from":[37,144],"genetic":[38,258],"febrile":[41,79],"seizures":[42,170],"plus":[43],"(GEFS+),":[44],"to":[45,239],"developmental":[46],"epileptic":[48],"encephalopathies":[49],"(DEEs).":[50],"disorders":[52],"also":[53],"result":[54],"in":[55,108,136,150,164,177,216,257,273],"diseases":[57],"such":[58],"as":[59,206,237],"hemiplegic":[60],"migraine":[61,190,197],"autism":[63],"disorder":[65],"(ASD).":[66],"Dravet":[67,276],"syndrome":[68,277],"(DS)":[69],"prototypic":[72],"DEE":[73],"an":[75],"early":[76],"onset":[77,89],"status":[80],"epilepticus,":[81],"hemiclonic":[82],"or":[83,147],"generalized":[84],"tonic\u2010clonic":[85],"seizures,":[86],"later":[88],"additional":[91,180],"seizure":[92],"types.":[93],"Electroencephalography":[94],"(EEG)":[95],"magnetic":[97],"resonance":[98],"imaging":[99],"(MRI)":[100],"are":[101,142,171,219,270],"normal":[102,107],"at":[103],"onset.":[104],"Development":[105],"first":[110],"year":[111],"life":[113],"but":[114,140],"plateaus":[115],"rapidly,":[116],"most":[118,173],"patients":[119,263,274],"ultimately":[120],"having":[121],"intellectual":[122],"disability.":[123],"Epilepsy":[124],"drug\u2010resistant":[126],"necessitates":[128],"polytherapy.":[129],"Most":[130,222],"pathogenic":[131,252],"variants":[132,253],"occur":[133],"de":[134],"novo":[135],"affected":[138,146],"child,":[139],"they":[141,229],"inherited":[143],"mosaic":[145],"unaffected":[148],"parents":[149],"rare":[151,194],"cases.":[152],"The":[153],"molecular":[154],"finding":[155],"haploinsufficiency":[157],"consistent":[159],"loss\u2010of\u2010function":[162],"defect":[163],"cells":[165],"animal":[167],"models.":[168],"Although":[169],"commonly":[174],"reported":[175,215,272],"symptom":[176],"DS,":[178],"many":[179],"issues":[181],"critically":[182],"affect":[183],"patients\u2019":[184],"cognitive":[185],"behavioral":[187],"functioning.":[188],"Hemiplegic":[189],"(HM)":[191],"form":[195],"aura,":[199],"characterized":[200],"by":[201],"emergence":[203],"hemiparesis":[205],"part":[207],"aura":[210],"phase.":[211],"All":[212],"mutations":[214],"sporadic/familial":[217],"HM3":[218],"missense":[220],"mutations.":[221,248],"experimental":[225],"results":[226],"show":[227],"that":[228],"cause":[230],"gain":[232],"function":[234,243],"NaV1.1":[236,247],"opposed":[238],"loss":[241],"epileptogenic":[246],"SCN2A":[251],"have":[254],"been":[255],"identified":[256],"studies":[259],"cohorts":[261],"ASD.":[265],"In":[266],"addition,":[267],"ASD":[268],"features":[269],"often":[271],"DEEs.":[280]},"counts_by_year":[{"year":2026,"cited_by_count":28},{"year":2025,"cited_by_count":46},{"year":2024,"cited_by_count":49},{"year":2023,"cited_by_count":39},{"year":2022,"cited_by_count":43},{"year":2021,"cited_by_count":44},{"year":2020,"cited_by_count":9}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2020-01-23T00:00:00"}
