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JOURNAL ARTICLE

[Clinico-pathological correlation in case of BRAT1 mutation]

Krystyna Szymańska, Milena Laure-Kamionowska, Krzysztof Szczałuba, Agnieszka Koppolu, Mariusz Furmanek, Katarzyna Kuśmierska, Snir Boniel, Rafał Płoski, Małgorzata Rydzanicz
Folia Neuropathologica 2018, 56 (4): 362-371
30786674
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.

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