Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/21979
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dc.contributor.authorPoke, Gemma-
dc.contributor.authorKing, Chontelle-
dc.contributor.authorMuir, Alison-
dc.contributor.authorde Valles-Ibáñez, Guillem-
dc.contributor.authorGermano, Michele-
dc.contributor.authorMoura de Souza, Carolina F-
dc.contributor.authorFung, Jasmine-
dc.contributor.authorChung, Brian-
dc.contributor.authorFung, Cheuk Wing-
dc.contributor.authorMignot, Cyril-
dc.contributor.authorIlea, Adina-
dc.contributor.authorKeren, Boris-
dc.contributor.authorVermersch, Anne-Isabelle-
dc.contributor.authorDavis, Suzanne-
dc.contributor.authorStanley, Thorsten-
dc.contributor.authorMoharir, Mahendranath-
dc.contributor.authorKannu, Peter-
dc.contributor.authorShao, Zhuo-
dc.contributor.authorMalerba, Natascia-
dc.contributor.authorMerla, Giuseppe-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorSadleir, Lynette G-
dc.date2019-10-20-
dc.date.accessioned2019-10-29T05:19:19Z-
dc.date.available2019-10-29T05:19:19Z-
dc.date.issued2019-11-
dc.identifier.citationEpilepsia 2019; 60(11): e121-e127-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/21979-
dc.description.abstractPathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously reported cases, including 6 children from one family. We delineate the epileptology of GNB5 encephalopathy. Our nine patients, including five new patients, were from seven families. Epileptic spasms were the most frequent seizure type, occurring in eight of nine patients, and began at a median age of 3 months (2 months to 3 years). Focal seizures preceded spasms in three children, with onset at 7 days, 11 days, and 4 months. One child presented with convulsive status epilepticus at 6 months. Three children had burst suppression on electroencephalography (EEG), three had hypsarrhythmia, and one evolved from burst suppression to hypsarrhythmia. Background slowing was present in all after age 3 years. Magnetic resonance imaging (MRI) showed cerebral atrophy in one child and cerebellar atrophy in another. All nine had abnormal development prior to seizure onset and ultimately had profound impairment without regression. Hypotonia was present in all, with contractures developing in two older patients. All individuals had biallelic pathogenic variants in GNB5, predicted by in silico tools to result in protein truncation and loss-of-function. GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment.-
dc.language.isoeng-
dc.subjectGNB5-
dc.subjectdevelopmental and epileptic encephalopathy-
dc.subjectepilepsy-
dc.subjectintellectual disability-
dc.subjectrecessive-
dc.titleThe epileptology of GNB5 encephalopathy.-
dc.typeJournal Article-
dc.identifier.journaltitleEpilepsia-
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand-
dc.identifier.affiliationDepartment of Pediatrics, University of Washington, Seattle, WA, USA-
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand-
dc.identifier.affiliationMaternal and Pediatric Department, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy-
dc.identifier.affiliationMedical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil-
dc.identifier.affiliationDepartment of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong City, Hong Kong-
dc.identifier.affiliationDepartment of Genetics, Reference Center for Intellectual Disorders of Rare Causes, APHP, Pitié-Salpêtrière University Hospital, Paris, France-
dc.identifier.affiliationDepartment of Pediatric Neurology and Metabolic Diseases, APHP, Robert Debré Hospital, Paris, France-
dc.identifier.affiliationDepartment of Genetics, APHP, Pitié-Salpêtrière University Hospital, Paris, France-
dc.identifier.affiliationDepartment of Neurophysiology, APHP, Armand-Trousseau Hospital, Paris, France-
dc.identifier.affiliationStarship Children's Hospital, Auckland, New Zealand-
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand-
dc.identifier.affiliationDivision of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada-
dc.identifier.affiliationDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada-
dc.identifier.affiliationDivision of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy-
dc.identifier.affiliationDepartment of Pediatrics, University of Washington, Seattle, WA, USA-
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand-
dc.identifier.affiliationFlorey and Murdoch Children's Research Institute, and Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australiaen
dc.identifier.affiliationAustin Health, Heidelberg, Victoria, Australia-
dc.identifier.doi10.1111/epi.16372-
dc.identifier.orcid0000-0002-8748-4866-
dc.identifier.orcid0000-0001-5078-928Xen
dc.identifier.orcid0000-0002-2311-2174en
dc.identifier.orcid0000-0002-9420-085X-
dc.identifier.pubmedid31631344-
dc.type.austinJournal Article-
local.name.researcherScheffer, Ingrid E
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
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