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Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/31607
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dc.contributor.authorHapp, Hannah C-
dc.contributor.authorSadleir, Lynette G-
dc.contributor.authorZemel, Matthew-
dc.contributor.authorde Valles-Ibáñez, Guillem-
dc.contributor.authorHildebrand, Michael S-
dc.contributor.authorMcConkie-Rosell, Allyn-
dc.contributor.authorMcDonald, Marie-
dc.contributor.authorMay, Halie-
dc.contributor.authorSands, Tristan-
dc.contributor.authorAggarwal, Vimla-
dc.contributor.authorElder, Christopher-
dc.contributor.authorFeyma, Timothy-
dc.contributor.authorBayat, Allan-
dc.contributor.authorMøller, Rikke S-
dc.contributor.authorFenger, Christina D-
dc.contributor.authorKlint Nielsen, Jens Erik-
dc.contributor.authorDatta, Anita N-
dc.contributor.authorGorman, Kathleen M-
dc.contributor.authorKing, Mary D-
dc.contributor.authorLinhares, Natalia-
dc.contributor.authorBurton, Barbara K-
dc.contributor.authorParas, Andrea-
dc.contributor.authorEllard, Sian-
dc.contributor.authorRankin, Julia-
dc.contributor.authorShukla, Anju-
dc.contributor.authorMajethia, Purvi-
dc.contributor.authorOlson, Rory J-
dc.contributor.authorMuthusamy, Karthik-
dc.contributor.authorSchimmenti, Lisa A-
dc.contributor.authorStarnes, Keith-
dc.contributor.authorSedlackova, Lucie-
dc.contributor.authorSterbova, Katalin-
dc.contributor.authorVlckova, Marketa-
dc.contributor.authorLassuthova, Petra-
dc.contributor.authorJahodova, Alena-
dc.contributor.authorPorter, Brenda E-
dc.contributor.authorCouque, Nathalie-
dc.contributor.authorColin, Estelle-
dc.contributor.authorProuteau, Clément-
dc.contributor.authorCollet, Corinne-
dc.contributor.authorSmol, Thomas-
dc.contributor.authorCaumes, Roseline-
dc.contributor.authorVansenne, Fleur-
dc.contributor.authorBisulli, Francesca-
dc.contributor.authorLicchetta, Laura-
dc.contributor.authorPerson, Richard-
dc.contributor.authorTorti, Erin-
dc.contributor.authorMcWalter, Kirsty-
dc.contributor.authorWebster, Richard-
dc.contributor.authorGerard, Elizabeth E-
dc.contributor.authorLesca, Gaetan-
dc.contributor.authorSzepetowski, Pierre-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorCarvill, Gemma L-
dc.date2022-
dc.date.accessioned2023-01-12T01:38:31Z-
dc.date.available2023-01-12T01:38:31Z-
dc.date.issued2022-10-28-
dc.identifier.citationNeurology 2022en_US
dc.identifier.issn1526-632X-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/31607-
dc.description.abstractKCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.en_US
dc.language.isoeng-
dc.titleNeurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleNeurologyen_US
dc.identifier.affiliationKen and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.en_US
dc.identifier.affiliationUniversity of Otago, Wellington, New Zealand.en_US
dc.identifier.affiliationUniversity of Washington, Seattle, WA, USA.en_US
dc.identifier.affiliationInstitute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.en_US
dc.identifier.affiliationDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.en_US
dc.identifier.affiliationDepartment of Neurology, Columbia University Irving Medical Center, New York, NY, USA.en_US
dc.identifier.affiliationGillette Children's Specialty Healthcare, St. Paul, MN, USA.en_US
dc.identifier.affiliationDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.en_US
dc.identifier.affiliationDepartment of Clinical Medicine, Zealand University Hospital, Roskilde, Denmark.en_US
dc.identifier.affiliationUniversity of British Columbia, Vancouver, Canada.en_US
dc.identifier.affiliationThe Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple St., Temple Street, Dublin 1, Ireland.en_US
dc.identifier.affiliationGenuity Science, Dublin, Ireland.en_US
dc.identifier.affiliationLurie Children's Hospital of Chicago, Chicago, IL, USA.en_US
dc.identifier.affiliationExeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.en_US
dc.identifier.affiliationDept Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.en_US
dc.identifier.affiliationDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.en_US
dc.identifier.affiliationCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.en_US
dc.identifier.affiliationDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.en_US
dc.identifier.affiliationNeurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.en_US
dc.identifier.affiliationEpilepsy Research Centre Prague - EpiReC consortium.en_US
dc.identifier.affiliationNeurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.en_US
dc.identifier.affiliationStanford University School of Medicine, Palo Alto, CA, USA.en_US
dc.identifier.affiliationLaboratoire de biologie médicale multisites Seqoia-FMG2025, Laboratoire Génétique Moléculaire Robert-Debré, Paris, France.en_US
dc.identifier.affiliationService de Génétique, CHU d'Angers, Angers, France.en_US
dc.identifier.affiliationLaboratoire de biologie médicale multisites Seqoia-FMG2025, Laboratoire Génétique Moléculaire Robert-Debré, Paris, France.en_US
dc.identifier.affiliationUniv. Lille, CHU Lille, ULR7364 - RADEME, Clinique de Genetique, F-59000 Lille, France.en_US
dc.identifier.affiliationUniveristy Medical Center Groningen, Groningen, the Netherlands.en_US
dc.identifier.affiliationDepartment of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy.en_US
dc.identifier.affiliationIRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the ERN EpiCARE Bologna, Italy.en_US
dc.identifier.affiliationGeneDx, Gaithersburg, MD, USA.en_US
dc.identifier.affiliationEpilepsy Research Centreen_US
dc.identifier.affiliationDepartment of Medical Genetics, University Hospital of Lyon, Claude Bernard Lyon 1 University, Lyon, France.en_US
dc.identifier.affiliationINSERM, Aix-Marseille University, INMED, Marseille, France.en_US
dc.identifier.affiliationCenter for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.en_US
dc.identifier.doi10.1212/WNL.0000000000201492en_US
dc.type.contentTexten_US
dc.identifier.orcid0000-0002-8266-266Xen_US
dc.identifier.orcid0000-0002-6242-4306en_US
dc.identifier.orcid0000-0001-7285-1195en_US
dc.identifier.orcid0000-0003-4986-8006en_US
dc.identifier.orcid0000-0002-9664-1448en_US
dc.identifier.orcid0000-0002-5488-1507en_US
dc.identifier.orcid0000-0001-7879-0450en_US
dc.identifier.orcid0000-0003-3154-4249en_US
dc.identifier.orcid0000-0001-6346-7327en_US
dc.identifier.orcid0000-0002-1109-7296en_US
dc.identifier.orcid0000-0002-1654-9036en_US
dc.identifier.orcid0000-0002-2311-2174en_US
dc.identifier.pubmedid36307226-
local.name.researcherHildebrand, Michael S
item.grantfulltextnone-
item.openairetypeJournal Article-
item.languageiso639-1en-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
crisitem.author.deptEpilepsy Research Centre-
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