Professor Leanne Dibbens

Research Professor of Human Genetics UniSA Clinical & Health Sciences

City East Campus (P5-31)
tel +61 8 830 21124

email Leanne.Dibbens@unisa.edu.au

Available for media comment
Research Degree Supervisor

About me

Leanne is a geneticist and molecular biologist interested in the effects of genetic variation on human health. She is an NHMRC Senior Research Fellow who leads the Epilepsy Genetics Research Group and is Head of Genetics at the Australian Centre for Precision Health.

Leanne studied a Bachelor of Science Degree Hons (1st Class) at the University of Adelaide and gained her PhD in 1998 from the Departments of Biochemistry and Genetics at the University of Adelaide. Her doctoral studies with Prof Robert Saint focused on identifying a Drosophila melanogaster gene, pebble (pbl) important in cell division. Leanne trained in genetics, genomics, gene discovery, biochemistry, cell cycle regulation, molecular... Read more

UniSA Clinical & Health Sciences

UniSA Clinical & Health Sciences is addressing society’s most critical and emerging health needs through quality teaching, learning and research excellence.

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Research

Research focus

Medical and Health Sciences
Clinical Sciences
Biological Sciences
Neurosciences
Cognitive Sciences

Highlights

Since 2000 Leanne has specialised in identifying the genetic causes of epilepsy and other neurological disorders including autism, intellectual disability and psychiatric features. Leanne and her group study individuals and families and use a variety of genetic and genomic methodologies to identify the genetic cause. Around 70% of all epilepsy (of which are there more than 30 different syndromes) is thought to have a genetic basis.

Her team collaborates with Clinicians from all over the world who refer patients into their genetics research projects. Strategies including genetic linkage analyses and next generation sequencing are employed.The group are establishing animal models of neurological disorders in order to understand more... Read more

Research

Outputs

Research outputs for the last seven years are shown below. Some long-standing staff members may have older outputs included. To see earlier years visit ORCID or Scopus

Open access indicates that an output is open access.

Highlights

Year	Output
2015	Møller, RS, Heron, SE, Larsen, LH, Lim, CX, Ricos, MG, Bayly, MA & Dibbens, LM and 24 other authors 2015, 'Mutations in KCNT1 cause a spectrum of focal epilepsies', Epilepsia, vol. 56, no. 9, pp. e114-e120. Open access 132 124 8
2013	Dibbens, LM, De Vries, B, Donatello, S, Heron, SE, Hodgson, B, Iona, X & Scheffer, IE and 28 other authors 2013, 'Mutations in DEPDC5 cause familial focal epilepsy with variable foci', Nature Genetics, vol. 45, no. 5, pp. 546-551. 318 278

Journal Articles

Year	Output
2024	Hussain, R, Lim, CX, Shaukat, Z, Islam, A, Caseley, EA, Lippiat, JD, Rychkov, GY, Ricos, MG & Dibbens, LM 2024, 'Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy', Scientific Reports, vol. 14, no. 1, article no. 3357 , pp. 1-12. Open access 4 6 87
2024	Saidin, A, Cherepnalkovski, AP, Shaukat, Z, Arsov, T, Hussain, R, Roberts, BJ, Bucat, M, Cogelja, K, Ricos, MG & Dibbens, LM 2024, 'A novel pathogenic TUBA1A variant in a Croatian infant is linked to a severe tubulinopathy with Walker-Warburg-like features', Genes, vol. 15, no. 8, pp. 1-11. Open access
2023	Islam, A, Shaukat, Z, Newman, DL, Hussain, R, Ricos, MG, Dibbens, L & Gregory, SL 2023, 'Chromosomal instability causes sensitivity to polyamines and one-carbon metabolism', Metabolites, vol. 13, no. 5, article no. 642. Open access 2 2 1
2023	Shaukat, Z, Byard, RW, Vink, R, Hussain, R, Ricos, MG & Dibbens, LM 2023, 'Investigating genetic variants in microRNA regulators of Neurokinin-1 receptor in sudden infant death syndrome', Acta Paediatrica: Nurturing the Child, vol. 112, no. 2, pp. 273-276. Open access 1
2022	Rychkov, GY, Shaukat, Z, Lim, CX, Hussain, R, Roberts, BJ, Bonardi, CM, Rubboli, G, Meaney, BF, Whitney, R, Møller, RS, Ricos, MG & Dibbens, LM 2022, 'Functional effects of Epilepsy associated KCNT1 mutations suggest pathogenesis via aberrant inhibitory neuronal activity', International Journal of Molecular Sciences, vol. 23, no. 23, article no. 15133, pp. 1-14. Open access 4 4 6
2021	Bonardi, CM, Heyne, HO, Fiannacca, M, Fitzgerald, MP, Dibbens, L & Rubboli, G and 42 other authors 2021, 'KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum', Brain, vol. 144, no. 12, pp. 3635-3650. Open access 54 54 25
2021	Courage, C, Oliver, KL, Park, EJ, Cameron, JM, Dibbens, LM & Lehesjoki, AE and 33 other authors 2021, 'Progressive myoclonus epilepsies - residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes', American Journal of Human Genetics, vol. 108, no. 4, pp. 722-738. 60 55 1
2019	Rubboli, G, Plazzi, G, Picard, F, Nobili, L, Hirsch, E, Chelly, J, Prayson, RA, Boutonnat, J, Bramerio, M, Kahane, P, Dibbens, LM, Gardella, E, Baulac, S & Moller, RS 2019, 'Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations', Annals of Clinical and Translational Neurology, vol. 6, no. 2, pp. 386-391. Open access 33 33 1
2017	Hughes, J, Dawson, R, Tea, M, McAninch, D, Piltz, S, Jackson, D, Stewart, L, Ricos, MG, Dibbens, LM, Harvey, NL & Thomas, P 2017, 'Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling', Scientific Reports, vol. 7, no. 1, article no. 12618, pp. 1-15. Open access 45 42 3
2017	Zhang, Y-H, Burgess, R, Malone, JP, Glubb, GC, Dibbens, LM & Scheffer, IE and 15 other authors 2017, 'Genetic epilepsy with febrile seizures plus', Neurology, vol. 89, 12, pp. 1210-1219. 130 100 12
2016	Afawi, Z, Oliver, KL, Kivity, S, Mazarib, A, Heron, SE, Dibbens, LM & Berkovic, SF and 27 other authors 2016, 'Multiplex families with epilepsy: success of clinical and molecular genetic characterization', Neurology, vol. 86, no.8, pp. 713-722. Open access 23 21 17
2016	Bagnall, RD, Crompton, DE, Petrovski, S, Lam, L, Cutmore, C, Garry, S I, Sadleir, LG, Dibbens, LM, Cairns, A, Kivity, S, Afawi, Z, Regan, BM, Duflou, J, Berkovic, SF, Scheffer, IE & Semsarian, C 2016, 'Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy', Annals of Neurology, vol. 79, no. 4, pp. 522-534. 215 196 64
2016	Dibbens, L, Schwake, M, Saftig, P & Rubboli, G 2016, 'SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome', Epileptic Disorders: International Epilepsy Journal With Videotape, vol. 18, no. S2, pp. S63-S72. 30 21 1
2016	Dibbens, LM & Rubboli, G 2016, 'GOSR2: a progressive myoclonus epilepsy gene', Epileptic Disorders: International Epilepsy Journal With Videotape, vol. 18, no. S2, pp. 111-114. 25 14
2016	Gardella, E, Becker, F, Møller, RS, Schubert, J, Heron, SE, Dibbens, LM & Weber, Y and 21 other authors 2016, 'Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation', Annals of Neurology, vol. 79, no.3, pp. 428-436. 166 143 2
2016	Lim, CX, Ricos, MG, Dibbens, LM & Heron, SE 2016, 'KCNT1 mutations in seizure disorders: The phenotypic spectrum and functional effects', Journal of Medical Genetics, vol. 53, no. 4, pp. 217-225. Open access 92 83 15
2016	Ricos, MG, Hodgson, B, Pippucci, T, Saidin, A, Ong, YS, Heron, SE, Bayly, MA & Dibbens, LM and 14 other authors and 1 consortium 2016, 'Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy', Annals of Neurology, vol.79,no.1, pp. 120-131. 192 170 3
2016	Smith, NJ, Lipsett, J, Dibbens, LM & Heron, SE 2016, 'BRAT1-associated neurodegeneration:intra-familial phenotypic differences in siblings', American Journal of Medical Genetics Part A, vol. 170, no. 11, pp. 3033-3038. 17 15 1
2015	Carvill, G, Crompton, D, Regan, B, McMahon, J, Saykally, J, Zemel, M, Schneider, A, Dibbens, L, Howell, K, Mandelstam, S, Leventer, R, Harvey, A, Mullen, S, Berkovic, S, Sullivan, J, Scheffer, I & Mefford, H 2015, 'Epileptic spasms are a feature of DEPDC5 mTORopathy', Neurology: Genetics, vol. 1, no. 2, pp. 1-8. Open access 73 5
2015	Damiano, JA, Mullen, SA, Hildebrand, MS, Bellows, ST, Lawrence, KM, Arsov, T, Dibbens, L, Major, H, Dahl, H-HM, Mefford, HC, Darbro, BW, Scheffer, IE & Berkovic, SF 2015, 'Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy', Epilepsy Research, vol. 117, pp. 70-73. 6 6 2
2015	Muona, M, Berkovic, SF, Dibbens, LM, Oliver, KL, Bayly, MA, Heron, SE & Lehesjoki, A-E and 44 other authors 2015, 'A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy', Nature Genetics, vol. 47, pp. 39-46. Open access 96 235 100
2015	Møller, RS, Heron, SE, Larsen, LH, Lim, CX, Ricos, MG, Bayly, MA & Dibbens, LM and 24 other authors 2015, 'Mutations in KCNT1 cause a spectrum of focal epilepsies', Epilepsia, vol. 56, no. 9, pp. e114-e120. Open access 132 124 8
2015	Scerri, T, Riseley, JR, Gillies, G, Pope, K, Burgess, R, Mandelstam, SA, Dibbens, LM, Chow, CW, Maixner, W, Harvey, AS, Jackson, GD, Amor, DJ, Delatycki, M, Crino, PB, Berkovic, SF, Scheffer, IE, Bahlo, M, Lockhart, P & Leventer, R 2015, 'Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5', Annals of Clinical and Translational Neurology, vol. 3, no. 5, pp. 575-580. Open access 94 87
2015	Yamamoto, T, Shimojima, K, Sangu, N, Komoike, Y, Heron, SE, Dibbens, LM & Okumura, A and 15 other authors 2015, 'Single Nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures', PLoS One, vol. 10, no. 3, e0118946, pp. 1-11. Open access 14 10 2
2014	Carvill, GL, Weckhuysen, S, McMahon, JM, Hartmann, C, Hodgson, B, Dibbens, LM & Mefford, HC and 19 other authors 2014, 'GABRA1 and STXBP1: novel genetic causes of Dravet syndrome', Neurology, vol. 82, no. 14, pp. 1245-1253. Open access 238 213
2014	Kim, YO, Bellows, S, McMahon, JM, Iona, X, Damiano, J, Dibbens, L, Kelley, K, Gill, D, Cross, JH, Berkovic, SF & Scheffer, IE 2014, 'Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline', Developmental Medicine and Child Neurology, vol. 56, no. 1, pp. 85-90. Open access 15 14
2014	Milligan, CJ, Li, M, Gazina, E V, Heron, SE, Nair, U, Tager, C, Reid, CA, Venkat, A, Younkin, DP, Dlugos, DJ, Petrovski, S, Goldstein, DB, Dibbens, LM, Scheffer, IE, Berkovic, SF & Petrou, S 2014, 'KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine', Annals of Neurology, vol. 75, no. 4, pp. 581-590. Open access 232 215
2014	Puskarjov, M, Seja, P, Heron, SE, Williams, TC, Ahmad, F, Iona, X, Oliver, KL, Grinton, BE, Vutskits, L, Scheffer, IE, Petrou, S, Dibbens, LM, Berkovic, SF & Kaila, K 2014, 'A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation', EMBO Reports, vol. 15, no. 6, pp. 723-729. Open access 156 141
2014	Scheffer, I, Heron, SE, Regan, BM, 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 2014, 'Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations', Annals of Neurology, vol. 75, no. 5, pp. 782-787. Open access 207 185
2014	Vadlamudi, L, Milne, RL, Lawrence, K, Heron, S, Eckhaus, J, Keay, D, Connellan, M, Torn-Broers, Y, Howell, RA, Mulley, J, Scheffer, I, Dibbens, L, Hopper, JL & Berkovic, SF 2014, 'Genetics of epilepsy: The testimony of twins in the molecular era', Neurology, vol. 83 no. 12, pp. 1042-1048. Open access 63 52
2014	Yip, T, O'Doherty, C, Tan, N, Dibbens, L & Suppiah, V 2014, 'SCN1A variations and response to multiple antiepileptic drugs', Pharmacogenomics Journal, vol. 14, no. 4, pp. 385-389. Open access 23 21
2013	Dibbens, LM, De Vries, B, Donatello, S, Heron, SE, Hodgson, B, Iona, X & Scheffer, IE and 28 other authors 2013, 'Mutations in DEPDC5 cause familial focal epilepsy with variable foci', Nature Genetics, vol. 45, no. 5, pp. 546-551. 318 278
2013	Gleich, K, Desmond, MJ, Lee, D, Berkovic, SF, Dibbens, LM, Katerlos, M, Bayly, MA, Fraser, SA, Martinello, P, Vears, DF, Mount, P & Power, DA 2013, 'Abnormal processing of autophagosomes in transformed B lymphocytes form SCARB2-deficient subjects', BioResearch open access, vol. 2, no. 1, pp. 40-46. Open access 9 9
2013	Heron, S & Dibbens, L 2013, 'Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy', Journal of Medical Genetics, vol. 50, no. 3, pp. 133-139. Open access 88 76
2013	Heron, SE, Ong, YS, Yendle, SC, McMahon, JM, Berkovic, SF, Scheffer, IE & Dibbens, LM 2013, 'Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies', Epilepsia, vol. 54, no. 5, pp. e86-e89. Open access 15 10
2013	Kim, YO, Dibbens, L, Marini, C, Suls, A, Chemaly, N, Mei, D, McMahon, JM, Iona, X, Berkovic, SF, De Jonghe, P, Guerrini, R, Nabbout, R & Scheffer, IE 2013, 'Do mutations in SCN1B cause Dravet syndrome?', Epilepsy Research, vol. 103, no. 1, pp. 97-100. 12 11
2013	Klein, KM, Bromhead, CJ, Smith, KR, O'Callaghan, CJ, Corcoran, SJ, Heron, SE, Iona, X, Hodgson, BL, McMahon, JM, Lawrence, KM, Scheffer, IE, Dibbens, LM, Bahlo, M & Berkovic, SF 2013, 'Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26', Neurology, vol. 80, no. 16, pp. 1485-1493. 20 17
2013	Lomax, LB, Bayly, MA, Hjalgrim, H, Møller, RS, Dibbens, LM & Berkovic, SF and 20 other authors 2013, ''North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation', Brain, vol. 136, no. 4, pp. 1146-1154. Open access 65 55
2013	Mullen, SA, Carvill, GL, Bellows, S, Bayly, MA, Berkovic, SF, Dibbens, LM, Scheffer, IE & Mefford, HC 2013, 'Copy number variants are frequent in genetic generalized epilepsy with intellectual disability', Neurology, vol. 81, no. 17, pp. 1507-1514. Open access 137 127
2013	Mulley, J, Hodgson, B, McMahon, JM, Iona, X, Bellows, S, Mullen, SA, Farrell, K, Mackay, M, Sadleir, L, Bleasel, A, Gill, D, Webster, R, Wirrell, EC, Harbord, M, Sisodiya, S, Andermann, E, Kivity, S, Berkovic, SF, Scheffer, IE & Dibbens, LM 2013, 'Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome', Epilepsia, vol. 54, no. 9, pp. 122-126. 62 57
2012	Dibbens, LM, Hodgson, BL, Helbig, KL, Oliver, KL, Mulley, JC, Berkovic, SF & Scheffer, IE 2012, 'Rare protein sequence variation in SV2A gene does not affect response to levetiracetam', Epilepsy Research, vol. 101, no. 3, pp. 277-279. 11 9
2012	Heron, SE, Grinton, B, Kivity, S, Afawi, Z, Hodgson, BL, Iona, X & Dibbens, LM and 17 other authors 2012, 'PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome', American Journal of Human Genetics, vol. 90, no. 1, pp. 152-160. Open access 239 208
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 2012, 'Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy', Nature Genetics, vol. 44, no. 11, pp. 1188-1190. Open access 334 304
2012	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 and Development, vol. 35, no. 7, pp. 641-646. 32 30
2012	Perandones, C, Micheli, FE, Pellene, LA, Bayly, MA, Berkovic, SF & Dibbens, LM 2012, 'A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2', Movement Disorders, vol. 27, no. 9, pp. 1200-1201. 15 15
2012	Rojo, DC, Harvey, AS, Iona, X, Dibbens, LM, Damiano, JA, Arsov, T, Gill, D, Freeman, JL, Leventer, RJ, Vincent, A, Berkovic, SF, McMahon, JM & Scheffer, IE 2012, 'Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations', Epilepsy Research, vol. 100, no. 1-2, pp. 194-198. 12 10
2012	Scheffer, IE, Grinton, BE, Heron, SE, Kivity, S, Afawi, Z, Iona, X, Goldberg-Stern, H, Kinali, M, Andrews, I, Guerrini, R, Marini, C, Sadleir, LG, Berkovic, SF & Dibbens, LM 2012, 'PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures', Neurology, vol. 79, no. 21, pp. 2104-2108. Open access 77 64
2012	Steffens, M, Leu, C, Ruppert, A-K, Zara, F, Dibbens, LM & Sander, T and 84 other authors and 1 consortium 2012, 'Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1,2q22.3 and 17q21.32', Human Molecular Genetics, vol. 21, no. 24, pp. 359-372. Open access 134 131
2011	Corbett, MA, Schwake, M, Bahlo, M, Dibbens, LM, Lin, M, Gandolfo, LC, Vears, DF, O'Sullivan, JD, Robertson, T, Bayly, MA, Gardner, AE, Vlaar, AM, Korenke, C, Bloem, BR, de Coo, IF, Verhagen, JM, Lehesjoki, A-E, Gecz, J & Berkovic, SF 2011, 'A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia', American Journal of Human Genetics, vol. 88, no. 5, pp. 657-663. Open access 99 92
2011	Dibbens, L, Kneen, R, Bayly, M, Heron, S, Arsov, T, Damiano, J, Desai, T, Gibbs, J, McKenzie, F, Mulley, J, Ronan, A & Scheffer, I 2011, 'Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations', Neurology, vol. 76, no. 17, pp. 1514-1519. 47 42
2011	Dibbens, LM, Karakis, I, Bayly, MA, Costello, DJ, Cole, AJ & Berkovic, SF 2011, 'Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy', JAMA Neurology, vol. 68, no. 6, pp. 812-813. Open access 28 25
2011	Mulley, J, Heron, SE, Wallace, RH, Gecz, J & Dibbens, L 2011, '"Blinders, phenotype, and fashionable genetic analysis": Setting the record straight for epilepsy!', Epilepsia, v. 52, no. 9, pp. 1757-1758. 2 1
2011	Mulley, JC & Dibbens, LM 2011, 'Genetic variations and associated pathophysiology in the management of epilepsy', Application of Clinical Genetics, vol. 4, pp. 113-125. Open access 4 4
2011	Mulley, JC, Heron, SE & Dibbens, LM 2011, 'Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies', Epilepsia, vol. 52, no. 3, pp. 649-650. Open access 9 8
2011	Mulley, JC, Iona, X, Hodgson, B, Heron, SE, Berkovic, SF, Scheffer, IE & Dibbens, LM 2011, 'The role of seizure-related SEZ6 as a susceptibility gene in febrile seizures', Neurology Research International, vol. 2011, article no. 917565, pp. 1-4. Open access 17 15
2011	Mulley, JC, Scheffer, IE, Desai, T, Bayly, MA, Grinton, BE, Vears, DF, Berkovic, SF & Dibbens, LM 2011, 'Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes', Epilepsia, vol. 52, no. 10, pp. e139-e142. Open access 11 8
2011	Rojo, DC, Hamiwka, L, McMahon, J, Dibbens, L, Arsov, T, Suls, A, Stodberg, T, Kelley, K, Wirrell, E, Appleton, B, Mackay, M, Freeman, J, Yendle, S, Berkovic, S, Bienvenu, T, De Jonghe, P, Thorburn, D, Mulley, J, Mefford, H & Scheffer, I 2011, 'De novo SCN1A mutations in migrating partial seizures of infancy', Neurology, vol. 77, no. 4, pp. 380-383. Open access 92 83
2011	Rubboli, G, Franceschetti, S, Berkovic, SF, Canafoglia, L, Gambardella, A, Dibbens, LM, Riguzzi, P, Campieri, C, Magaudda, A, Tassinari, CA & Michelucci, R 2011, 'Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations', Epilepsia, vol. 52, no. 12, pp. 2356-2363. 55 43
2010	Corbett, MA, Bahlo, M, Jolly, L, Afawi, Z, Gardner, AE, Oliver, KL, Tan, S, Coffey, A, Mulley, JC, Dibbens, LM, Simri, W, Shalata, A, Kivity, S, Jackson, GD, Berkovic, SF & Gecz, J 2010, 'A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24', American Journal of Human Genetics, vol. 87, no. 3, pp. 371-375. Open access 107 104
2010	Dibbens, LM, Reid, CA, Hodgson, B, Thomas, EA, Phillips, AM, Gazina, E, Cromer, BA, Clarke, AL, Barma, TZ, Scheffer, IE, Berkovic, SF & Petrou, S 2010, 'Augmented currents of an HCN2 variant in patients with febrile seizure syndromes', Annals of Neurology, vol. 67, no. 4, pp. 542-546. Open access 95 88
2010	Hynes, K, Tarpey, P, Dibbens, LM, Bayly, MA, Berkovic, SF, Smith, R, Al Raisi, Z, Turner, SJ, Brown, NJ, Desai, TD, Haan, E, Turner, G, Christodoulou, J, Leonard, H, Gill, D, Stratton, MR, Gecz, J & Scheffer, IE 2010, 'Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families', Journal of Medical Genetics, vol. 47, no. 3, pp. 211-216. 69 61
2010	McIntosh, AM, Mcmahon, J, Dibbens, LM, Iona, X, Mulley, JC, Scheffer, IE & Berkovic, SF 2010, 'Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study', Lancet Neurology, vol. 9, no. 6, pp. 592-598. Open access 122 96
2010	McMahon, JM, Scheffer, IE, Nicholl, JK, Waters, W, Eyre, H, Hinton, L, Nelson, P, Yu, S, Dibbens, LM, Berkovic, SF & Mulley, JC 2010, 'Detection of microchromosomal aberrations in refractory epilepsy : a pilot study', Epileptic Disorders: International Epilepsy Journal With Videotape, vol. 12, no. 3, pp. 192-198. 14 14
2010	Scheffer, I, Zhang, Y, Gecz, J & Dibbens, LM 2010, 'Genetics of the epilepsies: genetic twists in the channels and other tales', Epilepsia, vol. 51, no. s1, pp. 33-36. Open access 8 5
2010	Vadlamudi, L, Dibbens, LM, Lawrence, KM, 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', New England Journal of Medicine, vol. 363, no. 14, pp. 1335-1340. Open access 92 80
2009	Dibbens, L, Harkin, L, Richards, M, Hodgson, B, Clarke, A, Petrou, S, Scheffer, I, Berkovic, S & Mulley, J 2009, 'The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies', Neuroscience Letters, vol. 453, no. 3, pp. 162-165. 34 31
2009	Dibbens, L, Michelucci, R, Gambardella, A, Andermann, F, Rubboli, G, Bayly, M, Joensuu, T, Vears, D, Franceschetti, S, Canafoglia, L, Wallace, R, Bassuk, A, Power, D, Tassinari, C, Andermann, E, Lehesjoki, A & Berkovic, S 2009, 'SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure', Annals of Neurology, vol. 66, no. 4, pp. 532-536. Open access 83 71
2009	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, 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', Human Molecular Genetics, vol. 18, no. 19, pp. 3626-3631. Open access 208 189
2009	Marini, C, Scheffer, IE, Nabbout, R, Mei, D, Dibbens, LM & Mulley, JC 2009, 'SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis', Epilepsia, vol. 50, no. 7, pp. 1670-1678. Open access 157 125
2009	Mulley, J & Dibbens, LM 2009, 'Chipping away at the common epilepsies with complex genetics: The 15q13.3 microdeletion shows the way', Genome Medicine: Medicine in the Post-Genomic Era, vol. 1, no. 3, article 33, pp. 1-5. Open access 21 16
2009	Scheffer, IE, Zhang, Y-H, Jansen, FE & Dibbens, L 2009, 'Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?', Brain and Development, vol. 31, no. 5, pp. 394-400. 147 128
2009	Sijben, AE, Sithinamsuwan, P, Radhakrishnan, A, Badawy, RA, Dibbens, L, Mazarib, A, Lev, D, Lerman-Sagie, T, Straussberg, R, Berkovic, SF & Scheffer, IE 2009, 'Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?', Epilepsia, vol. 50, no. 4, pp. 953-956. Open access 21 17
2008	Berkovic, S, Diyagama, D, Matigian, N, Mulley, J, Scheffer, IE, Dibbens, LM, Bayly, MA, Hayward, N, Helbig, I, Holloway, A, Bain, M & Vadlamudi, L 2008, 'Gene expression analysis in absence epilepsy using a monozygotic twin design ', Epilepsia, vol. 49, no. 9, pp. 1546-1554. 26 23
2008	Berkovic, SF, Dibbens, LM, Oshlack, A, Silver, JD, Bayly, MA & Bahlo, M and 20 other authors 2008, 'Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis', American Journal of Human Genetics, vol. 82, no. 3, pp. 673-684. Open access 219 192
2008	Dibbens, LM, Tarpey, PS, Hynes, K, Bayly, MA & Gecz, J 2008, 'X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment', Nature Genetics, vol. 40, no. 6, pp. 776-781. Open access 383 346
2008	Scheffer, IE, Turner, SJ, Dibbens, LM, Bayly, MA & Berkovic, SF and 21 other authors 2008, 'Epilepsy and mental retardation limited to females : an under-recognized disorder', Brain, vol. 131, no. 4, pp. 918-927. Open access 151 133

Research

Current research & highlights

The gene discoveries made by Leanne and her group include 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 with co-morbidities of intellectual disability and psychiatric features. Most recently the group discovered DEPDC5, NPRL2 and NPRL3 as important genes in focal epilepsies, including cases with brain malformations. This has drawn attention to the importance of the mTOR pathway in epilepsy.

The 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. All of the gene discoveries made by the group have now become available as diagnostic tests for patients.

We also have an interest in common epilepsies with complex inheritance and reported the first functionally confirmed susceptibility locus in the GABA(A) Receptor gene, GABRD. We have published studies on the role of Copy Number Variants including 15q13.3 in epilepsy and its co-morbidities and examined whether these act as genetic modifiers in forms of epilepsy.

We are interested in collaborating with Industry partners and from 2000-2006 the Epilepsy Research Group provided a platform for the development of the Adelaide based biotechnology company Bionomics Ltd.

External engagement & recognition

Collaborations

External engagement & recognition

Collaborations

Organisation	Country
Alder Hey Children's NHS Trust	UNITED KINGDOM
Amplexa Genetics	DENMARK
Anjo Kosei Hospital	JAPAN
Austin Health	AUSTRALIA
Australian National University	AUSTRALIA
Baker Heart and Diabetes Institute	AUSTRALIA
Bellaria Hospital	ITALY
Ben Gurion University of the Negev	ISRAEL
Bogazici University	TURKEY
Carlo Besta Neurological Institute	ITALY
Centre de Référence Épilepsies Rares	FRANCE
Childrens Hospital of Philadelphia	UNITED STATES
Chonnam National University	KOREA, REPUBLIC OF (SOUTH)
Cleveland Clinic Foundation	UNITED STATES
Clinical Hospital Center Split	CROATIA
Columbia University	UNITED STATES
Copenhagen University Hospital	DENMARK
Cork University Hospital	IRELAND
Countess of Chester Hospital	UNITED KINGDOM
Danish Epilepsy Centre	DENMARK
Duke University	UNITED STATES
Erasmus MC, Rotterdam	NETHERLANDS
Flinders Medical Centre	AUSTRALIA
Flinders University	AUSTRALIA
Florey Institute of Neuroscience and Mental Health	AUSTRALIA
Folkhalsan Research Centre	FINLAND
Garvan Institute of Medical Research	AUSTRALIA
Ginatuna Association	ISRAEL
Goce Delcev University	NORTH MACEDONIA
Gold Service, Hunter Genetics	AUSTRALIA
Grenoble Alpes University	FRANCE
Grenoble University Hospital Centre (France)	FRANCE
Griffith University	AUSTRALIA
Hautepierre Hospital	FRANCE
Helsingin Yliopisto	FINLAND
Hopital Civil	FRANCE
Imperial College of Science, Technology and Medicine	UNITED KINGDOM
Institute for Breathing and Sleep	AUSTRALIA
IRCCS Foundation	ITALY
IRCCS Institute of Neurological Sciences	ITALY
IRCCS Stella Maris Foundation Pisa	ITALY
Istanbul University	TÜRKIYE
John Radcliffe Hospital	UNITED KINGDOM
Juntendo Nerima Hospital	JAPAN
Juntendo University	JAPAN
Karolinska Institute	SWEDEN
Klinikum Oldenburg	GERMANY
Kork Epilepsy Centre	GERMANY
Leiden University	NETHERLANDS
Maggiore Hospital	ITALY
Massachusetts General Hospital	UNITED STATES
Mayo Clinic	UNITED STATES
McGill University	CANADA
McMaster University	CANADA
Monash Medical Centre	AUSTRALIA
Monash University	AUSTRALIA
Montreal Neurological Hospital and Institute	CANADA
Murdoch Childrens Research Institute	AUSTRALIA
National Administration of Laboratories and Health Institutes of Argentina	ARGENTINA
National Neuroscience Institute	SINGAPORE
National Research Council	ITALY
National Research Council of Italy	ITALY
Niguarda Hospital	ITALY
North Shore University	UNITED STATES
Northern Health	AUSTRALIA
NorthShore University HealthSystem	UNITED STATES
Novocraft Technologies SDN Bhd	MALAYSIA
Ohio State University	UNITED STATES
Pathology Queensland	AUSTRALIA
Peking University	CHINA
Peter MacCallum Cancer Centre	AUSTRALIA
Queensland Children's Hospital	AUSTRALIA
Queensland Health Lady Cilento Children's Hospital	AUSTRALIA
Queensland Institute of Medical Research	AUSTRALIA
Radboud University Nijmegen	NETHERLANDS
Royal Alexandra Hospital for Children	AUSTRALIA
Royal Children’sHospital	AUSTRALIA
Royal Children's Hospital	UNITED KINGDOM
Royal Children's Hospital, Victoria	AUSTRALIA
SA Pathology	AUSTRALIA
Sackler Faculty of Medicine	ISRAEL
Schneider Children’s Medical Center of Israel	ISRAEL
Schneider Children's Medical Centre of Israel	ISRAEL
Seirei Hamamatsu General Hospital	JAPAN
Shizuoka Institute of Epilepsy and Neurological Disorders	JAPAN
Sleep Medicine Center Italy	ITALY
Sorbonne University	FRANCE
St. Lucas Andreas	NETHERLANDS
Stem-Cell and Brain Research Institute	FRANCE
Sydney Children's Hospital	AUSTRALIA
Tanabe-Kadobayashi Children's Clinic	JAPAN
Tel Aviv Sourasky Medical Centre	ISRAEL
Tel Aviv University	ISRAEL
Temple University	UNITED STATES
Tokyo Women's Medical University	JAPAN
UCL Institute of Neurology	UNITED KINGDOM
Universit at Bielefeld	GERMANY
University College London	UNITED KINGDOM
University Hospital Geneva	SWITZERLAND
University Hospital Heidelberg	GERMANY
University Libre Bruxelles	BELGIUM
University of Adelaide	AUSTRALIA
University of Antwerp	BELGIUM
University of Bologna	ITALY
University of Bonn	GERMANY
University of British Columbia	CANADA
University of Buenos Aires	ARGENTINA
University of California	UNITED STATES
University Of California, San Francisco (Ucsf)	UNITED STATES
University of Cambridge	UNITED KINGDOM
University of Cologne	GERMANY
University of Copenhagen	DENMARK
University of Florence	ITALY
University of Genoa	ITALY
University of Genova	ITALY
University of Heidelberg	GERMANY
University of Helsinki	FINLAND
University of Iowa	UNITED STATES
University of Kiel	GERMANY
University of Leeds	UNITED KINGDOM
University of Leipzig	GERMANY
University of Melbourne	AUSTRALIA
University of Messina	ITALY
University of Newcastle	AUSTRALIA
University of Otago	NEW ZEALAND
University of Padua	ITALY
University of Paris Descartes (Paris 5)	FRANCE
University of Pennsylvania	UNITED STATES
University of Queensland	AUSTRALIA
University of South Australia	AUSTRALIA
University of South Denmark	DENMARK
University of Southern Denmark	DENMARK
University of Split	CROATIA
University of Sydney	AUSTRALIA
University of Tubingen	GERMANY
University of Washington	UNITED STATES
University of Washington, Seattle	UNITED STATES
University of Western Australia	AUSTRALIA
Walter and Eliza Hall Institute of Medical Research	AUSTRALIA
Wellcome Trust Sanger Institute	UNITED KINGDOM
Western Galilee Hospital	ISRAEL
Wolfson Medical Center	ISRAEL
Women and Children's Health Research Institute	CANADA
Women's and Children's Health Network	AUSTRALIA
Women's and Children's Hospital	AUSTRALIA
Yale School of Medicine	UNITED STATES

External engagement & recognition

Engagement/recognition	Year
Project Grant: The identification of new epilepsy genes by whole genome sequencing National Health and Medical Research Council (NHMRC)	2017
Member American Epilepsy Society (AES)	2016
Member Human Genetics Society of Australasia (HGSA)	2016
Member American Society of Human Genetics (ASHG)	2016
Member International Child Neurology Association (ICNA)	2016
Project Grant National Health and Medical Research Council (NHMRC)	2016
Career Development Fellowship National Health and Medical Research Council (NHMRC)	2012

Teaching & student supervision

Research degree supervision

Supervisions from 2010 shown

Thesis title	Student status
Nutritional genomics and neurological disease (epilepsy)	Current
Understanding the genetics of Focal Epilepsies through the identification of the spectrum of variants and their combinatorial effects by whole genome sequencing	Current
Exploring the pathomechanisms underlying focal epilepsies	Completed

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Professor Leanne Dibbens

About me

About me

UniSA Clinical & Health Sciences

About me

Professional Associations

Experience

Qualifications

Work history

Research

Research focus

Highlights

Projects

Outputs

Highlights

Journal Articles

Current research & highlights

External engagement & recognition

Collaborations

Collaborations

External engagement & recognition

Project Grant: The identification of new epilepsy genes by whole genome sequencing

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Member

Member

Member

Project Grant

Career Development Fellowship

Teaching & student supervision

Courses and programs

Research degree supervision

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