De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

Sakshi SinghAditi GuptaMichael ZechAshley N SigafoosKarl J ClarkYasemin DincerMatias WagnerJennifer B HumbersonSarah GreenKoen van GassenTracy BrandtRhonda E SchnurFrancisca MillanYue SiVolker MallJuliane WinkelmannRalitza H GavrilovaEric W KleeKendra EnglemanNicole P SafinaRachel SlaughEmily M BryantWen-Hann TanJorge GranadilloSunita N MisraG Bradley SchaeferShelley TownerEva H BrilstraBobby P C Koeleman

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Our study underscores the importance of NR4A2 as a disease gene for neurodevelopmental disorders and epilepsy. The identified variants are likely causative of the seizures and additional developmental phenotypes in these patients.

Keyphrases

copy number
end stage renal disease
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
gene expression