Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/21979
Title: The epileptology of GNB5 encephalopathy.
Authors: Poke, Gemma;King, Chontelle;Muir, Alison;de Valles-Ibáñez, Guillem;Germano, Michele;Moura de Souza, Carolina F;Fung, Jasmine;Chung, Brian;Fung, Cheuk Wing;Mignot, Cyril;Ilea, Adina;Keren, Boris;Vermersch, Anne-Isabelle;Davis, Suzanne;Stanley, Thorsten;Moharir, Mahendranath;Kannu, Peter;Shao, Zhuo;Malerba, Natascia;Merla, Giuseppe;Mefford, Heather C;Scheffer, Ingrid E;Sadleir, Lynette G
Affiliation: Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand
Department of Pediatrics, University of Washington, Seattle, WA, USA
Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand
Maternal and Pediatric Department, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong City, Hong Kong
Department of Genetics, Reference Center for Intellectual Disorders of Rare Causes, APHP, Pitié-Salpêtrière University Hospital, Paris, France
Department of Pediatric Neurology and Metabolic Diseases, APHP, Robert Debré Hospital, Paris, France
Department of Genetics, APHP, Pitié-Salpêtrière University Hospital, Paris, France
Department of Neurophysiology, APHP, Armand-Trousseau Hospital, Paris, France
Starship Children's Hospital, Auckland, New Zealand
Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand
Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
Department of Pediatrics, University of Washington, Seattle, WA, USA
Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand
Florey and Murdoch Children's Research Institute, and Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia
Austin Health, Heidelberg, Victoria, Australia
Issue Date: Nov-2019
EDate: 2019-10-20
Citation: Epilepsia 2019; 60(11): e121-e127
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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/21979
DOI: 10.1111/epi.16372
ORCID: 0000-0002-8748-4866
0000-0002-9420-085X
0000-0001-5078-928X
0000-0002-2311-2174
PubMed URL: 31631344
Type: Journal Article
Subjects: GNB5
developmental and epileptic encephalopathy
epilepsy
intellectual disability
recessive
Appears in Collections:Journal articles

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