Clinico-pathological correlation in case of BRAT1 mutation

The clinical picture of BRCA1-associated protein required for ATM activation-1 (BRAT1) comprises retractable early-onset epileptic encephalopathy, progressive microcephaly, and early demise. Both, inter- and intrafamilial variations of features of BRAT1-associated disease have been described. Here,...

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Bibliographic Details
Published inFolia neuropathologica Vol. 56; no. 4; pp. 362 - 371
Main Authors Szymańska, Krystyna, Laure-Kamionowska, Milena, Szczałuba, Krzysztof, Koppolu, Agnieszka, Furmanek, Mariusz, Kuśmierska, Katarzyna, Boniel, Snir, Płoski, Rafał, Rydzanicz, Małgorzata
Format Journal Article
LanguageEnglish
Published Poland Termedia sp. z o.o 01.01.2018
Termedia Publishing House
Subjects
Age
BRAT1 mutation
BRCA1 protein
Central nervous system
central nervous system lesions
Encephalopathy
Epilepsy
epileptic encephalopathy
Etiology
Microencephaly
Mutation
seizures
seizures
BRAT1 mutation
central nervous system lesions
epileptic encephalopathy
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Summary:The clinical picture of BRCA1-associated protein required for ATM activation-1 (BRAT1) comprises retractable early-onset epileptic encephalopathy, progressive microcephaly, and early demise. Both, inter- and intrafamilial variations of features of BRAT1-associated disease have been described. Here, the familial case of a brother and sister with homozygous pathogenic variants in BRAT1 is presented with special emphasis on differences in seizure type/onset and central nervous system lesions. The neuropathology is extensively discussed and hypotheses put forward that may shed light on etiology of brain symptomatology within the context of BRAT1 mutations.
ISSN:1641-4640
1509-572X
DOI:10.5114/fn.2018.80870