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

doi:10.5114/fn.2018.80870

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

Current issue Archive Manuscripts accepted About the journal Special Issues Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

4/2018
vol. 56

Send email

Copy url:

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

View full text Get citation

PlumX metrics:

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:

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

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

Krystyna Szymańska

,

Milena Laure-Kamionowska

,

Krzysztof Szczałuba

,

Agnieszka Koppolu

,

Mariusz Furmanek

,

Katarzyna Kuśmierska

,

Snir Boniel

,

Rafał Płoski

,

Małgorzata Rydzanicz