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Archives of Neurology|June 15, 2011
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathyLeanne M Dibbens, Ioannis Karakis, Marta A Bayly, et al.
Human Mutation|May 10, 2005
SCN1A mutations and epilepsyJohn C Mulley, Ingrid E Scheffer, Steven Petrou, et al.
Neurology Research International|July 26, 2011
The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile SeizuresJohn C Mulley, Xenia Iona, Bree Hodgson, et al.
The Lancet. Neurology|May 8, 2010
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective studyAnne M McIntosh, Jacinta McMahon, Leanne M Dibbens, et al.
Epilepsy Research|May 4, 2012
Rare protein sequence variation in SV2A gene does not affect response to levetiracetamLeanne M Dibbens, Bree L Hodgson, Katherine L Helbig, et al.
Epilepsia|April 10, 2013
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathiesSarah E Heron, Yeh Sze Ong, Simone C Yendle, et al.
Epilepsia|July 23, 2011
Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypesJohn C Mulley, Ingrid E Scheffer, Tarishi Desai, et al.
The New England Journal of Medicine|October 1, 2010
Timing of de novo mutagenesis--a twin study of sodium-channel mutationsLata Vadlamudi, Leanne M Dibbens, Kate M Lawrence, et al.
Genes|August 29, 2024
A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like FeaturesAkzam Saidin, Anet Papazovska Cherepnalkovski, Zeeshan Shaukat, et al.
Scientific Reports|February 9, 2024
Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsyRashid Hussain, Chiao Xin Lim, Zeeshan Shaukat, et al.
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