Leanne M Dibbens

SCN1A mutations and epilepsy

Steven Petrou, I. Scheffer, S. Berkovic, 2005, Human mutation.

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.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Melanie Bahlo, Bastiaan R Bloem, Luke C Gandolfo, 2011, American journal of human genetics.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Andrew Menzies, Sarah Edkins, Sara Widaa, 2008, Nature Genetics.

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.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Michael R Stratton, N. Brown, I. Scheffer, 2009, Journal of Medical Genetics.