Journal article
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
IE Scheffer, KE Boysen, AL Schneider, CT Myers, MG Mehaffey, AM Rochtus, YP Yuen, GM Ronen, WK Chak, D Gill, A Poduri, HC Mefford
Developmental Medicine and Child Neurology | WILEY | Published : 2020
DOI: 10.1111/dmcn.14428
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..
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Awarded by March of Dimes Foundation
Funding Acknowledgements
The authors thank the patients and their families for participating in our research program and thank Fiona Gardiner for her assistance with manuscript preparation. IES serves on the editorial boards of Neurology and Epileptic Disorders; may accrue future revenue on a pending patent WO61/010176: Therapeutic Compound that relates to discovery of PCDH19 gene as the cause of familial epilepsy with mental retardation limited to females; is one of the inventors listed on a patent held by Bionomics Inc. on diagnostic testing of using the SCN1A gene, WO2006/133508; has received speaker honoraria from UCB, GSK, BioMarin, Xenon Pharma, and Nutricia; has received funding for travel from UCB, GSK, and BioMarin; and receives/has received research support from the National Health and Medical Research Council of Australia, Health Research Council of New Zealand, CURE, March of Dimes, and NIH/NINDS. AP receives research support from the NIH/NINDS. HCM receives research support from the NIH/NINDS. All other authors report no disclosures.