mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.

Camila A B GarciaSimone C S CarvalhoXiaoxu YangLaurel L BallRenee D GeorgeKiely N JamesValentina StanleyMartin W BreussUrsula ThoméMarcelo Volpon SantosFabiano P SaggioroLuciano Neder SerafiniWilson Araújo da Silva JuniorJoseph G GleesonHélio Rubens Machado

Published in: Epilepsia open (2020)

In the future, numerous somatic variants in known or new genes will undoubtedly be revealed in resected brain samples, making it possible to draw correlations between genotypes and phenotypes and allow for a genetic clinical diagnosis that may help to predict a given patient's outcome.

Keyphrases

copy number
genome wide
dna methylation
case report
lymph node
white matter
cell proliferation
single cell
current status
resting state
single molecule
cerebral ischemia
multiple sclerosis
bioinformatics analysis
brain injury