Associate Professor Leanne Dibbens
|Position:||Associate Research Professor|
|Division/Portfolio:||Division of Health Sciences|
|School/Unit:||School of Pharmacy and Medical Sciences|
|Campus:||City East Campus|
|Telephone:||+61 8 830 21124|
|Fax:||+61 8 830 22389|
|URL for Business Card:||http://people.unisa.edu.au/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 Thesis: n vivo targeted mutagenesis of the string gene of Drosophila melanogaster
1997 PhD Department of Genetics, The University of Adelaide Thesis: Characterization of pebble: a gene required for cytokinesis in Drosophila melanogaster
- I am a geneticist and a molecular biologist interested in the effects of genetic variation. I am currently an NHMRC Research Fellow (CDF) and head the Epilepsy Genetics Research Group within the Division of Health Sciences and the Sansom Institute for Health Research.
- My doctoral project focused on identifying a Drosophila melanogaster gene, pebble (pbl), which activates RhoA signalling essential for the process of cytokinesis in cell division. My studies involved investigations into cell cycle regulation, genetics, molecular biology and developmental biology.
- Since 2000 I have specialised in identifying the genetic causes of epilepsy and other neurological disorders including autism, intellectual disability and psychiatric features. Around 70% of all epilepsy (of which are there more than 30 different syndromes) is thought to have a genetic basis. We aim to discover the genes which cause epilepsy and its co-morbidities. Strategies using linkage analyses and next generation sequencing are undertaken. We are establishing animal models of neurological disorders in order to understand more about their underlying biology.
- Our gene discoveries have included PCDH19 as the gene for epilepsy, female limited (previously known as EFMR), SCARB2, GOSR2 and KCNC1 in progressive myoclonus epilepsy (PME), PRRT2 as a gene for Benign Infantile Epilepsies (BIE), KCNT1 in a form of focal (partial) epilepsy and DEPDC5 as an important gene in focal epilepsies, including cases with brain malformations. Our group has also worked extensively on the identification and characterisation of SCN1A mutations in forms of epilepsy including Dravet Syndrome and GEFS+ which led to genetic tests becoming available for patients.
- In 2004 we reported the first functionally confirmed susceptibility locus (GABRD) for the common epilepsies with complex inheritance. We have published studies on the role of CNVs including 15q13.3 in epilepsy and its co-morbidities and examined whether this acts as a genetic modifier in forms of epilepsy.
- The Epilepsy Research 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.
Selected Recent Publications
Møller RS, Heron S, Larsen LHG, Lim CX, Ricos MG, Bayly MA, van Kempen MJA, Klinkenberg S, Andrews PI, Kelley K, Ronen GM, Callen D, McMahon JM. Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia (in press).
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015: 47,39-46.
Mutations in mTOR regulator DEPDC5 cause focal epilepsy with brain malformations Scheffer IE, Heron SE, Regan B, Mandelstam S; Crompton DE; Hodgson BL, Licchetta L, Provini F, Bisulli F, Vadlamudi L, Gecz J, Connelly A, Tinuper P, Ricos MG, Berkovic SF, Dibbens LM. Mutations in mTOR regulator DEPDC5 cause focal epilepsy with brain malformations. Annals of Neurology 2014
Yamamoto T, Shimojima K, Sangu N, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T , Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A. Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. PLOS ONE 2015
Yip TS, O'Doherty C, Tan NC, Dibbens LM, Suppiah V. SCN1A variations and response to multiple antiepileptic drugs. Pharmacogenomics J. 2013
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S,Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J,Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM,Pandolfo M, Berkovic SF, Scheffer IE. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet. 2013 May;45(5)
Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet. 2013
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. PRRT2 mutation in Japanese children with benign infantile epilepsy. Brain Dev. 2012
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. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012: 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. PRRT2 phenotypic spectrum includes sporadic and fever - related infantile seizures. Neurology 2012: 79,2104-2108.
Mulley JC, Heron SE, Wallace RH, Gecz J, Dibbens LM. Blinders, phenotype, and fashionable genetic analysis’’: Setting the record straight for epilepsy! Epilepsia 2011: 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. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012: 90(1),152-160.
Mulley JC and Dibbens LM. Genetic variations and associated pathophysiology in the management of epilepsy. The Application of Clinical Genetics 2011: 4, 113-125.
Mulley JC, Heron SF, Dibbens LM. Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies. Epilepsia 2011: 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. Germline mosaicism of PCDH19 mutations results in recurrent risk of Epilepsy limited to Females with Mental Retardation. Neurology 2011: 76,1514–1519.
Dibbens LM, Karakis I, Bayly MA, Costello DJ, Cole AJ, Berkovic SF. Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. Arch. Neur. 2010
Scheffer IE, Zhang Y-H, Gecz J, Dibbens L. Genetics of the epilepsies: Genetic twists in the channels and other tales. Epilepsia 2010: 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. 2010: 363,1335-1340.
McIntosh AM, McMahon JM, Dibbens LM, Iona X, Mulley JC, Scheffer IE, Berkovic SF. Effect of vaccination on onset and outcome of Dravet Syndrome: a retrospective study. Lancet Neurol. 2010: 9,559-561.
Dibbens LM, Reid CA, Hodgson B, Thomas EA, Gazina EV, Cromer BA, Baram TZ, Scheffer IE, Berkovic SF, Petrou S. Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. Ann. Neurol. 2010: 67,542-546.
Mulley JC, Dibbens LM. Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way. Genome Medicine 2009: 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. SCARB2 mutations in progressive myoclonus epilepsy without renal failure. Ann. Neurol. 2009: 66,32-536.
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. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum. Mol. Gen. 2009: 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. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat. Genet. 2008: 40, 776-81.
I am able to provide media comment in the following areas of expertise:
- Human Genetics
- Genetics of Epilepsy
Yeh Sze Ong (PhD)
Chiao Xin Lim (PhD)
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