Related Experiment Video
Updated: Jan 28, 2026

Correlative Light- and Electron Microscopy Using Quantum Dot Nanoparticles
Published on: August 7, 2016
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.
Related Concept Videos
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Correlations
Correlation and Causation
Correlation versus Causation
If the dependent variable increases or decreases when the independent variable increases, there is a positive or negative...
Viral Mutations
Correlation
Two variables, for example, a and b, are said to be positively correlated if both variables move in the same direction. In other words, a positive correlation exists between two variables, a and b, if:

