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https://ahro.austin.org.au/austinjspui/handle/1/21979
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DC Field | Value | Language |
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dc.contributor.author | Poke, Gemma | - |
dc.contributor.author | King, Chontelle | - |
dc.contributor.author | Muir, Alison | - |
dc.contributor.author | de Valles-Ibáñez, Guillem | - |
dc.contributor.author | Germano, Michele | - |
dc.contributor.author | Moura de Souza, Carolina F | - |
dc.contributor.author | Fung, Jasmine | - |
dc.contributor.author | Chung, Brian | - |
dc.contributor.author | Fung, Cheuk Wing | - |
dc.contributor.author | Mignot, Cyril | - |
dc.contributor.author | Ilea, Adina | - |
dc.contributor.author | Keren, Boris | - |
dc.contributor.author | Vermersch, Anne-Isabelle | - |
dc.contributor.author | Davis, Suzanne | - |
dc.contributor.author | Stanley, Thorsten | - |
dc.contributor.author | Moharir, Mahendranath | - |
dc.contributor.author | Kannu, Peter | - |
dc.contributor.author | Shao, Zhuo | - |
dc.contributor.author | Malerba, Natascia | - |
dc.contributor.author | Merla, Giuseppe | - |
dc.contributor.author | Mefford, Heather C | - |
dc.contributor.author | Scheffer, Ingrid E | - |
dc.contributor.author | Sadleir, Lynette G | - |
dc.date | 2019-10-20 | - |
dc.date.accessioned | 2019-10-29T05:19:19Z | - |
dc.date.available | 2019-10-29T05:19:19Z | - |
dc.date.issued | 2019-11 | - |
dc.identifier.citation | Epilepsia 2019; 60(11): e121-e127 | - |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/21979 | - |
dc.description.abstract | Pathogenic 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.iso | eng | - |
dc.subject | GNB5 | - |
dc.subject | developmental and epileptic encephalopathy | - |
dc.subject | epilepsy | - |
dc.subject | intellectual disability | - |
dc.subject | recessive | - |
dc.title | The epileptology of GNB5 encephalopathy. | - |
dc.type | Journal Article | - |
dc.identifier.journaltitle | Epilepsia | - |
dc.identifier.affiliation | Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand | - |
dc.identifier.affiliation | Department of Pediatrics, University of Washington, Seattle, WA, USA | - |
dc.identifier.affiliation | Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand | - |
dc.identifier.affiliation | Maternal and Pediatric Department, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy | - |
dc.identifier.affiliation | Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil | - |
dc.identifier.affiliation | Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong City, Hong Kong | - |
dc.identifier.affiliation | Department of Genetics, Reference Center for Intellectual Disorders of Rare Causes, APHP, Pitié-Salpêtrière University Hospital, Paris, France | - |
dc.identifier.affiliation | Department of Pediatric Neurology and Metabolic Diseases, APHP, Robert Debré Hospital, Paris, France | - |
dc.identifier.affiliation | Department of Genetics, APHP, Pitié-Salpêtrière University Hospital, Paris, France | - |
dc.identifier.affiliation | Department of Neurophysiology, APHP, Armand-Trousseau Hospital, Paris, France | - |
dc.identifier.affiliation | Starship Children's Hospital, Auckland, New Zealand | - |
dc.identifier.affiliation | Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand | - |
dc.identifier.affiliation | Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada | - |
dc.identifier.affiliation | Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada | - |
dc.identifier.affiliation | Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy | - |
dc.identifier.affiliation | Department of Pediatrics, University of Washington, Seattle, WA, USA | - |
dc.identifier.affiliation | Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand | - |
dc.identifier.affiliation | Florey and Murdoch Children's Research Institute, and Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia | en |
dc.identifier.affiliation | Austin Health, Heidelberg, Victoria, Australia | - |
dc.identifier.doi | 10.1111/epi.16372 | - |
dc.identifier.orcid | 0000-0002-8748-4866 | - |
dc.identifier.orcid | 0000-0001-5078-928X | en |
dc.identifier.orcid | 0000-0002-2311-2174 | en |
dc.identifier.orcid | 0000-0002-9420-085X | - |
dc.identifier.pubmedid | 31631344 | - |
dc.type.austin | Journal Article | - |
local.name.researcher | Scheffer, Ingrid E | |
item.openairetype | Journal Article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.grantfulltext | none | - |
item.fulltext | No Fulltext | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
crisitem.author.dept | Epilepsy Research Centre | - |
Appears in Collections: | Journal articles |
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