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Title: BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
Austin Authors: Scheffer, Ingrid E ;Boysen, Katja E;Schneider, Amy L ;Myers, Candace T;Mehaffey, Michele G;Rochtus, Anne M;Yuen, Yuet-Ping;Ronen, Gabriel M;Chak, Wai Km;Gill, Deepak;Poduri, Annapurna;Mefford, Heather C
Affiliation: T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia
Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Murdoch Children's Research Institute, Parkville, Victoria, Australia
Department of Paediatrics, Royal Children's Hospital, Parkville, Victoria, Australia
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA
Department of Neurology, Harvard Medical School, Boston, MA, USA
Hong Kong Children's Hospital, Hong Kong
Tuen Mun Hospital, New Territories, West Cluster, Hong Kong
Issue Date: 23-Dec-2019
Date: 2019-12-23
Publication information: Developmental medicine and child neurology 2019; online first: 23 December
Abstract: Epilepsy of infancy with migrating focal seizures (EIMFS), one of the most severe developmental and epileptic encephalopathy syndromes, is characterized by seizures that migrate from one hemisphere to the other. EIMFS is genetically heterogeneous with 33 genes. We report five patients with EIMFS caused by recessive BRAT1 variants, identified via next generation sequencing. Recessive pathogenic variants in BRAT1 cause the rigidity and multifocal seizure syndrome, lethal neonatal with hypertonia, microcephaly, and intractable multifocal seizures. The epileptology of BRAT1 encephalopathy has not been well described. All five patients were profoundly impaired with seizure onset in the first week of life and focal seizure migration between hemispheres. We show that BRAT1 is an important recessive cause of EIMFS with onset in the first week of life, profound impairment, and early death. Early recognition of this genetic aetiology will inform management and reproductive counselling.
DOI: 10.1111/dmcn.14428
ORCID: 0000-0002-2311-2174
Journal: Developmental medicine and child neurology
PubMed URL: 31868227
Type: Journal Article
Appears in Collections:Journal articles

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