Northwestern University Feinberg School of Medicine

Gemma Carvill Lab

Our Mission

The primary goal of our research is to use gene discovery and molecular biology approaches to identify new treatments for epilepsy. We aim to 1) identify the genetic causes of epilepsy, 2) use stem cell models to understand how genetic mutations can cause epilepsy, 3) develop and test new therapeutics for this condition. Our work is based on the promise of precision medicine where knowledge of an individual’s genetic makeup shapes a personalized approach to care and management of epilepsy.

Recent publications


Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE  Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.  Epilepsia  2017 Nov 24;. doi:10.1111/epi.13957


Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.  Eur J Hum Genet  2017 Dec 05;. doi:10.1038/s41431-017-0039-5


  • Check out our new paper on WDR45 pathogenic variants published in Epilepsia


  • We are seeking enthusiastic team members to join the fight on epilepsy. See our research and career opportunities for more information.

Gemma L Carvill, PhD

Gemma L Carvill, PhD
Assistant Professor
Ken and Ruth Davee Department of Neurology
Department of Pharmacology
Center for Genetic Medicine

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