{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:45:49Z","timestamp":1790401549357,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,10,20]],"date-time":"2019-10-20T00:00:00Z","timestamp":1571529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001505","name":"Health Research Council of New Zealand","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001505","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000098","name":"NIH Clinical Center","doi-asserted-by":"publisher","award":["NS069605"],"award-info":[{"award-number":["NS069605"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in <jats:italic>GNB5<\/jats:italic> 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 <jats:italic>GNB5<\/jats:italic> 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\u00a0months (2\u00a0months to 3\u00a0years). Focal seizures preceded spasms in three children, with onset at 7 days, 11\u00a0days, and 4\u00a0months. One child presented with convulsive status epilepticus at 6\u00a0months. 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\u00a0years. 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 <jats:italic>GNB5<\/jats:italic>, predicted by in silico tools to result in protein truncation and loss\u2010of\u2010function. <jats:italic>GNB5<\/jats:italic> developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment.<\/jats:p>","DOI":"10.1111\/epi.16372","type":"journal-article","created":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T02:04:16Z","timestamp":1571623456000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["The epileptology of GNB5 encephalopathy"],"prefix":"10.1111","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8748-4866","authenticated-orcid":false,"given":"Gemma","family":"Poke","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Child Health University of Otago Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chontelle","family":"King","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health University of Otago Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9420-085X","authenticated-orcid":false,"given":"Alison","family":"Muir","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillem","family":"de Valles\u2010Ib\u00e1\u00f1ez","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health University of Otago Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Germano","sequence":"additional","affiliation":[{"name":"Maternal and Pediatric Department IRCCS Casa Sollievo della Sofferenza Hospital San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina F.","family":"Moura de Souza","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Clinicas de Porto Alegre Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmine","family":"Fung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine The University of Hong Kong Hong Kong City Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine The University of Hong Kong Hong Kong City Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheuk Wing","family":"Fung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine The University of Hong Kong Hong Kong City Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[{"name":"Department of Genetics Reference Center for Intellectual Disorders of Rare Causes APHP Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adina","family":"Ilea","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Metabolic Diseases APHP Robert Debr\u00e9 Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Isabelle","family":"Vermersch","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology APHP Armand\u2010Trousseau Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Davis","sequence":"additional","affiliation":[{"name":"Starship Children\u2019s Hospital Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Stanley","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health University of Otago Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahendranath","family":"Moharir","sequence":"additional","affiliation":[{"name":"Division of Neurology The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kannu","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuo","family":"Shao","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natascia","family":"Malerba","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics IRCCS Casa Sollievo della Sofferenza Hospital San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5078-928X","authenticated-orcid":false,"given":"Giuseppe","family":"Merla","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics IRCCS Casa Sollievo della Sofferenza Hospital San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather C.","family":"Mefford","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Florey and Murdoch Children\u2019s Research Institute Austin Health and Royal Children's Hospital University of Melbourne Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynette G.","family":"Sadleir","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health University of Otago Wellington New 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