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Dev Med Child Neurol. 2019 Dec 23. doi: 10.1111/dmcn.14428. [Epub ahead of print]

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.

Author information

1
Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.
2
Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia.
3
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
4
Department of Paediatrics, Royal Children's Hospital, Parkville, Victoria, Australia.
5
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
6
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
7
Department of Neurology, Harvard Medical School, Boston, MA, USA.
8
Hong Kong Children's Hospital, Hong Kong.
9
Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
10
Tuen Mun Hospital, New Territories, West Cluster, Hong Kong.
11
T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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.

PMID:
31868227
DOI:
10.1111/dmcn.14428

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