E. Reavey

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.

S. Zuberi, A. Brunklaus, G. Forbes, 2012, Brain : a journal of neurology.

Enhanced sensitivity to hydrogen peroxide‐induced apoptosis in Evi1 transformed Rat1 fibroblasts due to repression of carbonic anhydrase III

Y. Ishii, C. Bartholomew, E. Reavey, 2010, The FEBS journal.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Genotype phenotype associations across the voltage-gated sodium channel family

C. Semsarian, S. Zuberi, A. Brunklaus, 2014, Journal of Medical Genetics.

The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy

I. Scheffer, R. Appleton, M. King, 2013, Developmental medicine and child neurology.

Genotype–phenotype associations in SCN1A-related epilepsies

J. Duncan, S. Zuberi, A. Brunklaus, 2011, Neurology.

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.

H. Stewart, S. Zuberi, S. Jayawant, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Josemir W Sander, I. Scheffer, A. Palotie, 2015, EBioMedicine.

PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females

N. Williams, D. Costello, M. Marnane, 2017, Practical Neurology.

Cerebellar Purkinje Neurons and Granule Cells 1.6) in V (Na Scn8a Knockout of Sodium Channel Impaired Motor Function in Mice With Cell-Specific

S. I. Levin, Zayd M. Khaliq, C. Semsarian, 2014 .