The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Rosemary BurgessShuyu WangAmy McTagueKatja E BoysenXiaoling YangQi ZengKenneth A MyersAnne RochtusMarina TrivisanoDeepak Gillnull nullLynette G SadleirNicola SpecchioRenzo GuerriniCarla MariniYue-Hua ZhangHeather C MeffordManju A KurianAnnapurna H PoduriIngrid Eileen Scheffer

Published in: Annals of neurology (2020)

We identified a genetic cause in 69% of patients with EIMFS. We highlight the genetic heterogeneity of EIMFS with 9 newly implicated genes, bringing the total number to 33. Mosaicism was observed in probands and parents, carrying critical implications for recurrence risk. EIMFS pathophysiology involves diverse molecular processes from gene and protein regulation to ion channel function and solute trafficking. ANN NEUROL 2019;86:821-831.

Keyphrases

genome wide
copy number
dna methylation
single cell
body mass index
gene expression
weight gain
amino acid
small molecule
physical activity
binding protein
weight loss
free survival
temporal lobe epilepsy
genome wide analysis