M. Richards

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

Steven Petrou, I. Scheffer, S. Berkovic, 2004, Human molecular genetics.

The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies

J. C. Mulley, S. Petrou, I. Scheffer, 2009, Neuroscience Letters.

Novel mutations in the KCNQ 2 gene link epilepsy to a dysfunction of the KCNQ 2-calmodulin interaction

I. Scheffer, S. Berkovic, J. Mulley, 2004 .

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction

I. Scheffer, S. Berkovic, J. Mulley, 2004, Journal of Medical Genetics.

receptors is a susceptibility locus for Generalised Epilepsies

I. Scheffer, S. Berkovic, S. Petrou, 2004 .

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

Steven Petrou, David A Williams, I. Scheffer, 2002, American journal of human genetics.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

I. Scheffer, S. Berkovic, D. Lev, 2001, American journal of human genetics.