دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
المؤلفون: Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, 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., Boysen KE; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia., Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia., Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Mehaffey MG; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Rochtus AM; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., Yuen YP; Hong Kong Children's Hospital, Hong Kong., Ronen GM; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Chak WK; Tuen Mun Hospital, New Territories, West Cluster, Hong Kong., Gill D; T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
المصدر: Developmental medicine and child neurology [Dev Med Child Neurol] 2020 Sep; Vol. 62 (9), pp. 1096-1099. Date of Electronic Publication: 2019 Dec 23.
نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE
أسماء مطبوعة: Publication: <2010->: Oxford : Blackwell
Original Publication: 1962- : London : National Spastics Society Medical Education and Information
مواضيع طبية MeSH: Brain Diseases/*genetics , Epilepsy/*genetics , Epilepsy/*pathology , Nuclear Proteins/*genetics , Seizures/*genetics , Seizures/*pathology, Brain/pathology ; Genes, Recessive ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging
مستخلص: 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.
(© 2019 Mac Keith Press.)
التعليقات: Comment in: Dev Med Child Neurol. 2020 Sep;62(9):1012. (PMID: 31879938)
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المشرفين على المادة: 0 (BRAT1 protein, human)
0 (Nuclear Proteins)
تواريخ الأحداث: Date Created: 20191224 Date Completed: 20201214 Latest Revision: 20201214
رمز التحديث: 20221213
DOI: 10.1111/dmcn.14428
PMID: 31868227
قاعدة البيانات: MEDLINE
الوصف
تدمد:1469-8749
DOI:10.1111/dmcn.14428