Stephanie L. Leech

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

I. Scheffer, H. Mefford, G. Cioni, 2021, Brain : a journal of neurology.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.