Associate Professor Leanne Dibbens 

Human Genetics Society of Australasia (HGSA)

American Epilepsy Society (AES)

American Society of Human Genetics (ASHG)

International Child Neurology Association (ICNA)

1990 BSc Microbiology and Immunology, Biochemistry, The University of Adelaide

1991 BSc Hons (1st Class) Department of Biochemistry, The University of Adelaide - In vivo targeted mutagenesis of the string gene of Drosophila melanogaster

1997 PhD Department of Genetics, The University of Adelaide - Characterization of pebble: a gene required for cytokinesis in Drosophila melanogaster

• Leanne is an NHMRC Research Fellow (CDF) and heads the Epilepsy Research Program within the Division of Health Sciences and the Sansom Institute for Health Research.
• Leanne’s doctoral project focused on identifying a Drosophila melanogaster gene, pebble (pbl), which activates RhoA signalling essential for the process of cytokinesis in cell division. Her studies involved investigations into cell cycle regulation, classical genetics, molecular biology and developmental biology.
• Since 2000 Leanne has specialised in identifying genetic factors which contribute to human epilepsy and other neurological disorders such as autism, intellectual disability and psychiatric features, which are sometimes also seen. Around 70% of all epilepsy (of which are there more than 30 different syndromes) is thought to have a genetic basis. The Epilepsy Research Program aims to discover the genes which are mutated within rare, large families who show monogenic inheritance. Approaches of linkage analyses followed by massively parallel DNA sequencing are often undertaken in these studies. These discoveries in families are extended to sporadic cases of epilepsy where we find that de novo mutations of the genes of major effect are often responsible. By extending the spectrum of phenotypes included in our cohorts of patient we have found that one gene can play a role in more than one epilepsy syndrome.
• Gene discoveries have included PCDH19 as the gene for epilepsy, female limited with mental retardation (EFMR), SCARB2 and GOSR2 in cases of progressive myoclonus epilepsy (PME), PRRT2 as a gene for Benign Infantile Epilepsies (BIE), KCNT1 in a form of focal (partial epilepsy) and characterisation of mutations in the sodium channel gene SCN1A in forms of epilepsy including Dravet Syndrome and GEFS+.
• Leanne’s group also focuses on revealing the genetic factors underlying the more common forms of epilepsy which show complex inheritance. The cases are usually seen as a cluster of only a few affected people within a family, suggesting the contribution of more than one gene variant. In 2004 we reported the first functionally confirmed susceptibility locus (GABRD) for the common epilepsies with complex inheritance.
• Our group is interested in the contribution of deletions and duplications in chromosomes (copy number variants in epilepsy. We analysed the inheritance of the 15q13 microdeletion and confirmed its presence in approximately 1% of cases with a common form of epilepsy known as genetic generalised epilepsy (GGE).
• From 2000-2006 the Epilepsy Research Program provided a platform for the development of the biotechnology company Bionomics Ltd.

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Selected Recent Publications

Heron SE, Dibbens LM. (2013) Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet [Epubahead of print]

Okumura A, Shimojima K, Kubota T, Abe S, Yamashita S, Imai K, Okanishi T, Enoki H, Fukasawa T, Tanabe T, Dibbens LM, Shimizu T, Yamamoto T. (2012) PRRT2 mutation in Japanese children with benign infantile epilepsy. Brain Dev. 2012 [Epub ahead of print]

Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM. (2012) Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 44, 1188-90.

Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM. (2012) PRRT2 phenotypic spectrum includes sporadic and fever - related infantile seizures. Neurology 79, 2104-2108.

Mulley JC, Heron SE, Wallace RH, Gecz J, Dibbens LM. (2011) Blinders, phenotype, and fashionable genetic analysis’’: Setting the record straight for epilepsy! Epilepsia 52, 1757-1758.

Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. (2012) PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 90(1),152-160.

Mulley JC and Dibbens LM. Genetic variations and associated pathophysiology in the management of epilepsy. (2011) The Application of Clinical Genetics 4, 113-125.

Mulley JC, Heron SF, Dibbens LM. (2011) Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies. Epilepsia 52: 649-650.

Dibbens LM, Kneen R, Bayly, MA, Heron SE, Arsov T, MD, Damiano JA, Desai T, Gibbs J, McKenzie F, Mulley JC, Ronan A, Scheffer IE. (2011) Germline mosaicism of PCDH19 mutations results in recurrent risk of Epilepsy limited to Females with Mental Retardation. Neurology 76:1514–1519.

Dibbens LM, Karakis I, Bayly MA, Costello DJ, Cole AJ, Berkovic SF. (2010) Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. Arch. Neur. (in press)

Scheffer IE, Zhang Y-H, Gecz J, Dibbens L. (2010) Genetics of the epilepsies: Genetic twists in the channels and other tales. Epilepsia 51, 33-36.

Vadlamudi L, Dibbens LM, Lawrence K, Iona X, McMahon JM, Murrell W, Mackay-Sim A, Scheffer IE, Berkovic SF. (2010) Timing of de novo mutagenesis: a twin study of sodium channel mutations. N. Engl. J. Med. 363, 1335-1340.

McIntosh AM, McMahon JM, Dibbens LM, Iona X, Mulley JC, Scheffer IE, Berkovic SF. (2010) Effect of vaccination on onset and outcome of Dravet Syndrome: a retrospective study. Lancet Neurol. 9, 559-561.

Dibbens LM, Reid CA, Hodgson B, Thomas EA, Gazina EV, Cromer BA, Baram TZ, Scheffer IE, Berkovic SF, Petrou S. (2010) Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. Ann. Neurol. 67, 542-546.

Mulley JC, Dibbens LM. (2009) Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way. Genome Medicine 1: 33.

Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, L Canafoglia L, Wallace R, Bassuk AG, DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF (2009). SCARB2 mutations in progressive myoclonus epilepsy without renal failure. Ann. Neurol. 66, 532-536.

Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. (2009) Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum. Mol. Gen. 18, 3626-3631.

Dibbens LM, Tarpey PS, Hynes K, Bayly M., Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O’Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi, Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim H-G, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J. (2008) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat. Genet. 40, 776-81.

I am able to provide media comment in the following areas of expertise:

Discipline:

• Human Genetics
• Genetics of Epilepsy