{"id":"https://openalex.org/W2915550239","doi":"https://doi.org/10.1002/ana.25438","title":"SCN1A gain of function in early infantile encephalopathy","display_name":"SCN1A gain of function in early infantile encephalopathy","publication_year":2019,"publication_date":"2019-02-18","ids":{"openalex":"https://openalex.org/W2915550239","doi":"https://doi.org/10.1002/ana.25438","mag":"2915550239","pmid":"https://pubmed.ncbi.nlm.nih.gov/30779207"},"language":"en","primary_location":{"id":"doi:10.1002/ana.25438","doi":"https://doi.org/10.1002/ana.25438","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.25438","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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":"Annals of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"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/A5046089021","display_name":"G\u00e9za Berecki","orcid":"https://orcid.org/0000-0002-8664-6325","observed_orcids":["https://orcid.org/0000-0002-8664-6325"]},"institutions":[{"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/I242743682","display_name":"Florey Institute of Neuroscience and Mental Health","ror":"https://ror.org/03a2tac74","country_code":"AU","type":"facility","lineage":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"G\u00e9za Berecki","raw_affiliation_strings":["Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia"],"raw_orcid":"https://orcid.org/0000-0002-8664-6325","affiliations":[{"raw_affiliation_string":"Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065472002","display_name":"Alexander Bryson","orcid":"https://orcid.org/0000-0002-0033-8197","observed_orcids":["https://orcid.org/0000-0002-0033-8197"]},"institutions":[{"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/I242743682","display_name":"Florey Institute of Neuroscience and Mental Health","ror":"https://ror.org/03a2tac74","country_code":"AU","type":"facility","lineage":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Alexander Bryson","raw_affiliation_strings":["Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022284122","display_name":"Jan Terhag","orcid":null,"observed_orcids":[]},"institutions":[{"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/I242743682","display_name":"Florey Institute of Neuroscience and Mental Health","ror":"https://ror.org/03a2tac74","country_code":"AU","type":"facility","lineage":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Jan Terhag","raw_affiliation_strings":["Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050941123","display_name":"Snezana Maljevic","orcid":"https://orcid.org/0000-0003-1876-5872","observed_orcids":["https://orcid.org/0000-0003-1876-5872"]},"institutions":[{"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/I242743682","display_name":"Florey Institute of Neuroscience and Mental Health","ror":"https://ror.org/03a2tac74","country_code":"AU","type":"facility","lineage":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Snezana Maljevic","raw_affiliation_strings":["Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011707263","display_name":"Elena V. Gazina","orcid":null,"observed_orcids":[]},"institutions":[{"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/I242743682","display_name":"Florey Institute of Neuroscience and Mental Health","ror":"https://ror.org/03a2tac74","country_code":"AU","type":"facility","lineage":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Elena V. Gazina","raw_affiliation_strings":["Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048268124","display_name":"Sean Hill","orcid":"https://orcid.org/0000-0001-8055-860X","observed_orcids":["https://orcid.org/0000-0001-8055-860X"]},"institutions":[{"id":"https://openalex.org/I5124864","display_name":"\u00c9cole Polytechnique F\u00e9d\u00e9rale de Lausanne","ror":"https://ror.org/02s376052","country_code":"CH","type":"education","lineage":["https://openalex.org/I2799323385","https://openalex.org/I5124864"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Sean L. Hill","raw_affiliation_strings":["Blue Brain Project, Swiss Federal Institute of Technology in Lausanne, Geneva, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Blue Brain Project, Swiss Federal Institute of Technology in Lausanne, Geneva, Switzerland","institution_ids":["https://openalex.org/I5124864"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075877219","display_name":"Steven Petrou","orcid":"https://orcid.org/0000-0002-4960-6375","observed_orcids":["https://orcid.org/0000-0002-4960-6375","https://orcid.org/0000-0002-6324-442X"]},"institutions":[{"id":"https://openalex.org/I1320473756","display_name":"The Royal Melbourne Hospital","ror":"https://ror.org/005bvs909","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1320473756","https://openalex.org/I4210158168"]},{"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/I242743682","display_name":"Florey Institute of Neuroscience and Mental Health","ror":"https://ror.org/03a2tac74","country_code":"AU","type":"facility","lineage":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Steven Petrou","raw_affiliation_strings":["Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia","Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia","institution_ids":["https://openalex.org/I1320473756","https://openalex.org/I165779595"]},{"raw_affiliation_string":"Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I242743682"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5046089021","https://openalex.org/A5075877219"],"corresponding_institution_ids":["https://openalex.org/I1320473756","https://openalex.org/I165779595","https://openalex.org/I242743682"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":9.1664,"has_fulltext":false,"cited_by_count":95,"citation_normalized_percentile":{"value":0.98773489,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"85","issue":"4","first_page":"514","last_page":"525"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.5814999938011169,"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":0.5814999938011169,"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":0.4088999927043915,"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/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.00279999990016222,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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":0.9819999933242798},{"id":"https://openalex.org/keywords/gain-of-function","display_name":"gain-of-function","score":0.8230000138282776},{"id":"https://openalex.org/keywords/dravet-syndrome","display_name":"Dravet syndrome","score":0.9589999914169312},{"id":"https://openalex.org/keywords/sodium-channels","display_name":"sodium channels","score":0.45899999141693115},{"id":"https://openalex.org/keywords/depolarization-block","display_name":"depolarization block","score":0.8539999723434448},{"id":"https://openalex.org/keywords/action-potential-firing","display_name":"action potential firing","score":0.7680000066757202},{"id":"https://openalex.org/keywords/interneurons","display_name":"interneurons","score":0.8259999752044678},{"id":"https://openalex.org/keywords/disinhibition","display_name":"disinhibition","score":0.753000020980835},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8740000128746033},{"id":"https://openalex.org/keywords/computational-neuron-model","display_name":"computational neuron model","score":0.48500001430511475}],"concepts":[{"id":"https://openalex.org/C4141045","wikidata":"https://www.wikidata.org/wiki/Q83183","display_name":"Depolarization","level":2,"score":0.7261453866958618},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.6997038722038269},{"id":"https://openalex.org/C2780623815","wikidata":"https://www.wikidata.org/wiki/Q1255956","display_name":"Dravet syndrome","level":3,"score":0.6833266019821167},{"id":"https://openalex.org/C3020204279","wikidata":"https://www.wikidata.org/wiki/Q105590653","display_name":"Gain of function","level":4,"score":0.5332920551300049},{"id":"https://openalex.org/C50952357","wikidata":"https://www.wikidata.org/wiki/Q424960","display_name":"Sodium channel","level":3,"score":0.48185858130455017},{"id":"https://openalex.org/C185263204","wikidata":"https://www.wikidata.org/wiki/Q1154774","display_name":"Electrophysiology","level":2,"score":0.43180951476097107},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.36348646879196167},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3584364056587219},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3514173626899719},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.30409902334213257},{"id":"https://openalex.org/C12554922","wikidata":"https://www.wikidata.org/wiki/Q7100","display_name":"Biophysics","level":1,"score":0.21220111846923828},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.16796866059303284},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0},{"id":"https://openalex.org/C537181965","wikidata":"https://www.wikidata.org/wiki/Q658","display_name":"Sodium","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000073659","descriptor_name":"Gain of Function Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003412","descriptor_name":"Cricetulus","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004831","descriptor_name":"Epilepsies, Myoclonic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"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":"D013036","descriptor_name":"Spasms, Infantile","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D013036","descriptor_name":"Spasms, Infantile","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016466","descriptor_name":"CHO Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"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:10.1002/ana.25438","doi":"https://doi.org/10.1002/ana.25438","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.25438","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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":"Annals of Neurology","raw_type":"journal-article"},{"id":"pmid:30779207","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30779207","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":"Annals of neurology","raw_type":"Journal Article"},{"id":"pmh:oai:jupiter.its.unimelb.edu.au:11343/285564","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11343/285564","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":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[{"id":"https://openalex.org/G5690573920","display_name":null,"funder_award_id":"10915693","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G6240122553","display_name":"How gene mutations cause epilepsy","funder_award_id":"1005050","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G706182017","display_name":null,"funder_award_id":"CE14010007","funder_id":"https://openalex.org/F4320337740","funder_display_name":"Centre of Excellence for Integrative Brain Function, Australian Research Council"}],"funders":[{"id":"https://openalex.org/F4320321652","display_name":"Eidgen\u00f6ssische Technische Hochschule Z\u00fcrich","ror":"https://ror.org/05a28rw58"},{"id":"https://openalex.org/F4320322127","display_name":"Department of Health, State Government of Victoria","ror":"https://ror.org/00b9jhh55"},{"id":"https://openalex.org/F4320334705","display_name":"National Health and Medical Research Council","ror":"https://ror.org/011kf5r70"},{"id":"https://openalex.org/F4320337740","display_name":"Centre of Excellence for Integrative Brain Function, Australian Research Council","ror":"https://ror.org/02yasb727"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":43,"referenced_works":["https://openalex.org/W1564863670","https://openalex.org/W1597950071","https://openalex.org/W1921182138","https://openalex.org/W1970716201","https://openalex.org/W1970719523","https://openalex.org/W1980176764","https://openalex.org/W1985940938","https://openalex.org/W1988764473","https://openalex.org/W1993245863","https://openalex.org/W2001465365","https://openalex.org/W2009964743","https://openalex.org/W2011278122","https://openalex.org/W2020104881","https://openalex.org/W2025603247","https://openalex.org/W2031034568","https://openalex.org/W2044147947","https://openalex.org/W2048111738","https://openalex.org/W2050659319","https://openalex.org/W2065476766","https://openalex.org/W2093309387","https://openalex.org/W2095796165","https://openalex.org/W2096391625","https://openalex.org/W2100260601","https://openalex.org/W2100497330","https://openalex.org/W2100810674","https://openalex.org/W2105423985","https://openalex.org/W2107628842","https://openalex.org/W2114240651","https://openalex.org/W2117120818","https://openalex.org/W2117872894","https://openalex.org/W2131797361","https://openalex.org/W2157702138","https://openalex.org/W2159213224","https://openalex.org/W2338208255","https://openalex.org/W2338375276","https://openalex.org/W2469144905","https://openalex.org/W2515392405","https://openalex.org/W2588940923","https://openalex.org/W2742769516","https://openalex.org/W2745227041","https://openalex.org/W2763605737","https://openalex.org/W2771721302","https://openalex.org/W2805196575"],"related_works":["https://openalex.org/W2954439816","https://openalex.org/W4319915976","https://openalex.org/W4322753372","https://openalex.org/W4321434597","https://openalex.org/W3201710673","https://openalex.org/W4281740505","https://openalex.org/W3047090044","https://openalex.org/W3024813314","https://openalex.org/W4283773880","https://openalex.org/W3215016650"],"abstract_inverted_index":{"OBJECTIVE:":[0],"To":[1],"elucidate":[2],"the":[3,7,16,63,81,145,170,221],"biophysical":[4,168],"basis":[5],"underlying":[6],"distinct":[8],"and":[9,31,35,83,86,128,152,217],"severe":[10,44,223],"clinical":[11],"presentation":[12],"in":[13,54,107,122,135],"patients":[14,226],"with":[15,23,33,209,227],"recurrent":[17],"missense":[18],"SCN1A":[19,47],"variant,":[20],"p.Thr226Met.":[21],"Patients":[22],"this":[24,183],"variant":[25],"show":[26],"a":[27,104,167,203],"well-defined":[28],"genotype-phenotype":[29],"correlation":[30],"present":[32],"developmental":[34],"early":[36],"infantile":[37],"epileptic":[38],"encephalopathy":[39],"that":[40,67,97,116,154,182,211],"is":[41,212],"far":[42],"more":[43,160,191,204,222],"than":[45,207],"typical":[46,213],"Dravet":[48,215],"syndrome.":[49],"METHODS:":[50],"1.1":[51],"channels":[52,76],"expressed":[53],"mammalian":[55],"cells.":[56],"Computational":[57],"modeling":[58],"was":[59],"used":[60],"to":[61,110,162,190],"explore":[62],"neuronal":[64],"scale":[65],"mechanisms":[66],"account":[68],"for":[69],"altered":[70],"action":[71,91,119,131,149],"potential":[72,92,120,132,150],"firing.":[73],"RESULTS:":[74],"T226M":[75,101,136,156,171,228],"exhibited":[77],"hyperpolarizing":[78],"shifts":[79],"of":[80,130,175,185,214,225],"activation":[82],"inactivation":[84],"curves":[85],"enhanced":[87],"fast":[88],"inactivation.":[89],"Dynamic":[90],"clamp":[93,151],"hybrid":[94],"simulation":[95],"showed":[96,153],"model":[98,124,137],"neurons":[99],"containing":[100],"conductance":[102],"displayed":[103],"left":[105],"shift":[106],"rheobase":[108],"relative":[109],"control.":[111],"At":[112],"current":[113],"stimulation":[114],"levels":[115],"produced":[117],"repetitive":[118],"firing":[121,133],"control":[123],"neurons,":[125],"depolarization":[126,163,194],"block":[127],"cessation":[129],"occurred":[134],"neurons.":[138],"Fully":[139],"computationally":[140],"simulated":[141],"neuron":[142],"models":[143,157],"recapitulated":[144],"findings":[146],"from":[147],"dynamic":[148],"heterozygous":[155],"were":[158],"also":[159],"susceptible":[161],"block.":[164,195],"INTERPRETATION:":[165],"From":[166],"perspective,":[169],"mutation":[172],"produces":[173],"gain":[174,184],"function.":[176],"Somewhat":[177],"paradoxically,":[178],"our":[179],"data":[180],"suggest":[181],"function":[186],"would":[187,201],"cause":[188],"interneurons":[189],"readily":[192,219],"develop":[193],"This":[196],"\"functional":[197],"dominant":[198],"negative\"":[199],"interaction":[200],"produce":[202],"profound":[205],"disinhibition":[206],"seen":[208],"haploinsufficiency":[210],"syndrome":[216],"could":[218],"explain":[220],"phenotype":[224],"mutation.":[229],"Ann":[230],"Neurol":[231],"2019;85:514-525.":[232]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":19},{"year":2022,"cited_by_count":20},{"year":2021,"cited_by_count":15},{"year":2020,"cited_by_count":11},{"year":2019,"cited_by_count":9}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2019-03-02T00:00:00"}
