[Clinico-pathological correlation in case of BRAT1 mutation].

[Clinico-pathological correlation in case of BRAT1 mutation].
Folia Neuropathol. 2018;56(4):362-371
Authors: Szymańska K, Laure-Kamionowska M, Szczałuba K, Koppolu A, Furmanek M, Kuśmierska K, Boniel S, Płoski R, Rydzanicz M
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.
PMID: 30786674 [PubMed - in process]

Source: Folia Neuropathologica - February 24, 2019 Category: Neurology Tags: Folia Neuropathol Source Type: research