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Folia Neuropathologica
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4/2018
vol. 56
 
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abstract:
Case report

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 Neuropathol 2018; 56 (4): 362-371
DOI: https://doi.org/10.5114/fn.2018.80870
Online publish date: 2018/12/31
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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.
keywords:

BRAT1 mutation, epileptic encephalopathy, seizures, central nervous system lesions
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