@Article{Szymańska2018,
journal="Folia Neuropathologica",
issn="1641-4640",
volume="56",
number="4",
year="2018",
title="Clinico-pathological correlation in case of BRAT1 mutation",
abstract="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.",
author="Szymańska, Krystyna
and Laure-Kamionowska, Milena
and Szczałuba, Krzysztof
and Koppolu, Agnieszka
and Furmanek, Mariusz
and Kuśmierska, Katarzyna
and Boniel, Snir
and Płoski, Rafał
and Rydzanicz, Małgorzata",
pages="362--371",
doi="10.5114/fn.2018.80870",
url="http://dx.doi.org/10.5114/fn.2018.80870"
}