{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T01:20:39Z","timestamp":1773969639089,"version":"3.50.1"},"reference-count":47,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"vor","delay-in-days":181,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100001819","name":"International Rett Syndrome Foundation","doi-asserted-by":"publisher","award":["3701-1"],"award-info":[{"award-number":["3701-1"]}],"id":[{"id":"10.13039\/100001819","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003891","name":"Interthyr Research Foundation","doi-asserted-by":"publisher","award":["019-052"],"award-info":[{"award-number":["019-052"]}],"id":[{"id":"10.13039\/100003891","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["512848"],"award-info":[{"award-number":["512848"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","award":["BB\/M010996\/1"],"award-info":[{"award-number":["BB\/M010996\/1"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","award":["BB\/N015142\/1"],"award-info":[{"award-number":["BB\/N015142\/1"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","award":["BB\/T00875X\/1"],"award-info":[{"award-number":["BB\/T00875X\/1"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R01GM106373"],"award-info":[{"award-number":["R01GM106373"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP20K07907"],"award-info":[{"award-number":["JP20K07907"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R35NS105078"],"award-info":[{"award-number":["R35NS105078"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011680","name":"King Fahad Medical City","doi-asserted-by":"publisher","award":["IRF 019-052"],"award-info":[{"award-number":["IRF 019-052"]}],"id":[{"id":"10.13039\/501100011680","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32 GM007526-42"],"award-info":[{"award-number":["T32 GM007526-42"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32 NS043124-19"],"award-info":[{"award-number":["T32 NS043124-19"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017026","name":"Spastic Paraplegia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017026","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019639","name":"Philadelphia University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019639","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["K08 HG008986"],"award-info":[{"award-number":["K08 HG008986"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21cm0106503"],"award-info":[{"award-number":["JP21cm0106503"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109486"],"award-info":[{"award-number":["JP21ek0109486"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109493"],"award-info":[{"award-number":["JP21ek0109493"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109549"],"award-info":[{"award-number":["JP21ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014013","name":"UK Research and Innovation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014013","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016685","name":"Baylor-Hopkins Center for Mendelian Genomics","doi-asserted-by":"publisher","award":["UM1 HG006542"],"award-info":[{"award-number":["UM1 HG006542"]}],"id":[{"id":"10.13039\/100016685","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2022,9]]},"DOI":"10.1016\/j.ajhg.2022.07.006","type":"journal-article","created":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T10:40:18Z","timestamp":1660041618000},"page":"1713-1723","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode"],"prefix":"10.1016","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2233-3423","authenticated-orcid":false,"given":"Dana","family":"Marafi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina","family":"Kozar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruizhi","family":"Duan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Bradley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Yokochi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuad","family":"Al Mutairi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nebal Waill","family":"Saadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Whalen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theresa","family":"Brunet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urania","family":"Kotzaeridou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Choukair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Nava","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Arai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tawfiq","family":"Froukh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eissa Ali","family":"Faqeih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali M.","family":"AlAsmari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed M.","family":"Saleh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Pinto e Vairo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavel N.","family":"Pichurin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric W.","family":"Klee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher T.","family":"Schmitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher M.","family":"Grochowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadahiro","family":"Mitani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Herman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel G.","family":"Calame","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jawid M.","family":"Fatih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haowei","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"Coban-Akdemir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davut","family":"Pehlivan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shalini N.","family":"Jhangiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoko","family":"Miyatake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura J.","family":"Wagstaff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer E.","family":"Posey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dies","family":"Meijer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matias","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2022.07.006_bib1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1042\/AN20120095","article-title":"LGI proteins in the nervous system","volume":"5","author":"Kegel","year":"2013","journal-title":"ASN Neuro"},{"key":"10.1016\/j.ajhg.2022.07.006_bib2","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/S0968-0004(02)02163-1","article-title":"The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders","volume":"27","author":"Staub","year":"2002","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.ajhg.2022.07.006_bib3","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.brainres.2009.10.013","article-title":"Regional distribution of the leucine-rich glioma inactivated (LGI) gene family transcripts in the adult mouse brain","volume":"1307","author":"Herranz-P\u00e9rez","year":"2010","journal-title":"Brain Res."},{"key":"10.1016\/j.ajhg.2022.07.006_bib4","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/nn1598","article-title":"The claw paw mutation reveals a role for Lgi4 in peripheral nerve development","volume":"9","author":"Bermingham","year":"2006","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.ajhg.2022.07.006_bib5","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/j.neulet.2008.08.044","article-title":"Leucine-rich glioma inactivated 3 associates with syntaxin 1","volume":"444","author":"Park","year":"2008","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.ajhg.2022.07.006_bib6","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1097\/WNR.0b013e32830a4cc4","article-title":"Leucine-rich glioma inactivated 3 is involved in amyloid beta peptide uptake by astrocytes and endocytosis itself","volume":"19","author":"Okabayashi","year":"2008","journal-title":"Neuroreport"},{"key":"10.1016\/j.ajhg.2022.07.006_bib7","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.gene.2005.09.008","article-title":"Mouse Lgi3 gene: expression in brain and promoter analysis","volume":"372","author":"Lee","year":"2006","journal-title":"Gene"},{"key":"10.1016\/j.ajhg.2022.07.006_bib8","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1093\/nar\/gkg014","article-title":"SOURCE: a unified genomic resource of functional annotations, ontologies, and gene expression data","volume":"31","author":"Diehn","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2022.07.006_bib9","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1007\/s11064-010-0136-0","article-title":"Leucine-rich glioma inactivated 3 induces neurite outgrowth through Akt and focal adhesion kinase","volume":"35","author":"Park","year":"2010","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.ajhg.2022.07.006_bib10","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1212\/01.WNL.0000120098.39231.6E","article-title":"LGI1 mutations in autosomal dominant partial epilepsy with auditory features","volume":"62","author":"Ottman","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2022.07.006_bib11","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/j.ajhg.2017.02.006","article-title":"Loss-of-Function mutations in LGI4, a secreted ligand involved in schwann cell myelination, are responsible for arthrogryposis multiplex congenita","volume":"100","author":"Xue","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.07.006_bib12","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/ng832","article-title":"Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features","volume":"30","author":"Kalachikov","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2022.07.006_bib13","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1093\/hmg\/11.9.1119","article-title":"Mutations in the LGI1\/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy","volume":"11","author":"Morante-Redolat","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.07.006_bib14","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1212\/CON.0000000000000520","article-title":"Peripheral nerve hyperexcitability syndromes","volume":"23","author":"Sawlani","year":"2017","journal-title":"Continuum"},{"key":"10.1016\/j.ajhg.2022.07.006_bib15","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1136\/practneurol-2020-002567","article-title":"Autoimmune encephalitis: clinical spectrum and management","volume":"21","author":"Uy","year":"2021","journal-title":"Pract. Neurol."},{"key":"10.1016\/j.ajhg.2022.07.006_bib16","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1001\/archneurol.2012.54","article-title":"Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5","volume":"69","author":"Chen","year":"2012","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ajhg.2022.07.006_bib17","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/ng1094-136","article-title":"Episodic ataxia\/myokymia syndrome is associated with point mutations in the human potassium channel gene","volume":"8","author":"Browne","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2022.07.006_bib18","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1136\/practneurol-2019-002462","article-title":"Facial myokymia in inherited peripheral nerve hyperexcitability syndrome","volume":"20","author":"Camelo","year":"2020","journal-title":"Pract. Neurol."},{"key":"10.1016\/j.ajhg.2022.07.006_bib19","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1186\/s13023-021-01916-z","article-title":"PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data","volume":"16","author":"Wohler","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2022.07.006_bib20","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1620\/tjem.243.297","article-title":"Next generation sequencing and genome-wide genotyping identify the genetic causes of intellectual disability in ten consanguineous families from Jordan","volume":"243","author":"Froukh","year":"2017","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.ajhg.2022.07.006_bib21","doi-asserted-by":"crossref","first-page":"2747","DOI":"10.1093\/bioinformatics\/bts526","article-title":"A robust model for read count\u00a0data in exome sequencing experiments and implications for copy number variant calling","volume":"28","author":"Plagnol","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2022.07.006_bib22","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2022.07.006_bib23","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1038\/s41431-020-0632-x","article-title":"Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide","volume":"28","author":"Gonzaga-Jauregui","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.07.006_bib24","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/mus.24632","article-title":"Isaacs syndrome: a review","volume":"52","author":"Ahmed","year":"2015","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ajhg.2022.07.006_bib25","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1007\/BF02102170","article-title":"Ueber ein dem paramyoclonus multiplex (Friedreich) nahestehendes Krankheitsbild","volume":"19","author":"Kny","year":"1888","journal-title":"Archiv f. Psychiatrie"},{"key":"10.1016\/j.ajhg.2022.07.006_bib26","series-title":"Beitrage zur Musckelpathologie","first-page":"65","author":"Schultze","year":"1895"},{"key":"10.1016\/j.ajhg.2022.07.006_bib27","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1093\/brain\/84.1.31","article-title":"Facial myokymia in multiple sclerosis","volume":"84","author":"Andermann","year":"1961","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2022.07.006_bib28","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1159\/000114706","article-title":"Facial myokymia","volume":"13","author":"Rad\u00fc","year":"1975","journal-title":"Eur. Neurol."},{"key":"10.1016\/j.ajhg.2022.07.006_bib29","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1136\/jnnp.29.1.35","article-title":"Facial myokymia","volume":"29","author":"Matthews","year":"1966","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ajhg.2022.07.006_bib30","doi-asserted-by":"crossref","first-page":"D789","DOI":"10.1093\/nar\/gku1205","article-title":"OMIM.org: online Mendelian Inheritance in Man (OMIM\u00ae), an online catalog of human genes and genetic disorders","volume":"43","author":"Amberger","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2022.07.006_bib31","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1007\/s12016-011-8286-7","article-title":"Common pathways of autoimmune inflammatory myopathies and genetic neuromuscular disorders","volume":"42","author":"Satoh","year":"2012","journal-title":"Clin. Rev. Allergy Immunol."},{"key":"10.1016\/j.ajhg.2022.07.006_bib32","doi-asserted-by":"crossref","first-page":"6717","DOI":"10.1046\/j.1432-1033.2000.01785.x","article-title":"Molecular targets for autoimmune and genetic disorders of neuromuscular transmission","volume":"267","author":"Vincent","year":"2000","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.ajhg.2022.07.006_bib33","doi-asserted-by":"crossref","first-page":"2734","DOI":"10.1093\/brain\/awq213","article-title":"Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia","volume":"133","author":"Irani","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2022.07.006_bib34","doi-asserted-by":"crossref","first-page":"288","DOI":"10.4161\/chan.29965","article-title":"Axonal Kv7.2\/7.3 channels: caught in the act","volume":"8","author":"Kole","year":"2014","journal-title":"Channels"},{"key":"10.1016\/j.ajhg.2022.07.006_bib35","doi-asserted-by":"crossref","first-page":"E2935","DOI":"10.3390\/ijms21082935","article-title":"Kv1.1 channelopathies: pathophysiological mechanisms and therapeutic approaches","volume":"21","author":"D'Adamo","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ajhg.2022.07.006_bib36","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1002\/mus.880191102","article-title":"Serum of Isaacs' syndrome suppresses potassium channels in PC-12 cell lines","volume":"19","author":"Sonoda","year":"1996","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ajhg.2022.07.006_bib37","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/ana.410380505","article-title":"Acquired neuromyotonia: evidence for autoantibodies directed against K+ channels of peripheral nerves","volume":"38","author":"Shillito","year":"1995","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2022.07.006_bib38","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.braindev.2007.11.003","article-title":"Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions","volume":"30","author":"Kanaumi","year":"2008","journal-title":"Brain Dev."},{"key":"10.1016\/j.ajhg.2022.07.006_bib39","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1007\/s10571-007-9205-6","article-title":"Immunohistochemical and biochemical analyses of LGI3 in monkey brain: LGI3 accumulates in aged monkey brains","volume":"27","author":"Okabayashi","year":"2007","journal-title":"Cell. Mol. Neurobiol."},{"key":"10.1016\/j.ajhg.2022.07.006_bib40","doi-asserted-by":"crossref","first-page":"3857","DOI":"10.1523\/JNEUROSCI.6287-09.2010","article-title":"Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling","volume":"30","author":"Ozkaynak","year":"2010","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ajhg.2022.07.006_bib41","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1056\/NEJMoa1516767","article-title":"Resolution of disease phenotypes resulting from multilocus genomic variation","volume":"376","author":"Posey","year":"2017","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2022.07.006_bib42","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.ajhg.2019.05.015","article-title":"The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance","volume":"105","author":"Pehlivan","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.07.006_bib43","doi-asserted-by":"crossref","first-page":"1981","DOI":"10.1016\/j.ajhg.2021.08.009","article-title":"Evidence for a higher prevalence of oligogenic inheritance in neurodevelopmental disorders in the Turkish population","volume":"108","author":"Mitani","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.07.006_bib44","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1038\/gim.2018.33","article-title":"Phenotypic expansion illuminates multilocus pathogenic variation","volume":"20","author":"Karaca","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2022.07.006_bib45","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1101\/gr.229401.117","article-title":"Predicting human genes susceptible to genomic instability associated with Alu\/Alu-mediated rearrangements","volume":"28","author":"Song","year":"2018","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2022.07.006_bib46","doi-asserted-by":"crossref","first-page":"1633","DOI":"10.1038\/s41436-020-0864-8","article-title":"CNVs cause autosomal recessive genetic diseases with or without involvement of SNV\/indels","volume":"22","author":"Yuan","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2022.07.006_bib47","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.cell.2011.09.008","article-title":"Clan genomics and the complex architecture of human disease","volume":"147","author":"Lupski","year":"2011","journal-title":"Cell"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292972200310X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292972200310X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:22:36Z","timestamp":1762078956000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292972200310X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":47,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["S000292972200310X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2022.07.006","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2022.07.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022","name":"copyright","label":"Copyright"}]}}