Leanne Dibbens

APrf Leanne Dibbens

Research Professor of Human Genetics

School of Pharmacy and Biomedical Science

College of Health

Eligible to supervise Masters and PhD - email supervisor to discuss availability.

Available For Media Comment.

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 biology and developmental biology.
In 2000 Leanne joined the team of Prof John Mulley and Prof Grant Sutherland in the Department of Genetic Medicine at the Women's and Children's Hospital, Adelaide. From 2001-2008 Leanne led the Disease Genomics Research Group situated at Bionomics Ltd. Leanne has headed the Epilepsy Research Group since 2009 and her group employ the latest genomic technologies to study individuals and families with neurological disorders in order to find the genetic causes. In 2011 Leanne and her team joined the University of South Australia and in 2018 she was appointed Head of Genetics at the Australian Centre for Precision Health. Leanne's research has led to the identification of >30 genes in epilepsy and other neurological disorders. Her group is interested in the pathobiological mechanisms caused by mutations in these genes and how understanding this biology can be used to discover new diagnostics and treatments for people with these disorders. 

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 about the underlying biology so that we can better direct research to develop new therapies for patients.

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.

Year Citation
2025 Ricos, M. G., Cole, B. A., Hussain, R., Rychkov, G. Y., Shaukat, Z., Pilati, N., . . . Lippiat, J. D. (2025). Identification of new KCNT1-epilepsy drugs by In silico, cell, and drosophila modeling. Annals Of Neurology, online(6), 1-14.
DOI
2024 Hussain, R., Lim, C. X., Shaukat, Z., Islam, A., Caseley, E. A., Lippiat, J. D., . . . Dibbens, L. M. (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, 14(1, article no. 3357), 3357-1-3357-12.
DOI Scopus8 WoS8 Europe PMC8
2024 Islam, A., Shaukat, Z., Hussain, R., Ricos, M. G., Dibbens, L. M., & Gregory, S. L. (2024). Aneuploidy is linked to neurological phenotypes through oxidative stress. Journal of Molecular Neuroscience, 74(2, article no. 50), 1-11.
DOI Scopus1 WoS1
2024 Saidin, A., Cherepnalkovski, A. P., Shaukat, Z., Arsov, T., Hussain, R., Roberts, B. J., . . . Dibbens, L. M. (2024). A novel pathogenic TUBA1A variant in a Croatian infant is linked to a severe tubulinopathy with Walker-Warburg-like features. Genes, 15(8), 1-11.
DOI
2023 Islam, A., Shaukat, Z., Newman, D. L., Hussain, R., Ricos, M. G., Dibbens, L., & Gregory, S. L. (2023). Chromosomal instability causes sensitivity to polyamines and one-carbon metabolism. Metabolites, 13(5, article no. 642), 1-14.
DOI Scopus2 WoS3 Europe PMC6
2022 Shaukat, Z., Byard, R. W., Vink, R., Hussain, R., Ricos, M. G., & Dibbens, L. M. (2022). Investigating genetic variants in microRNA regulators of Neurokinin-1 receptor in sudden infant death syndrome. Acta Paediatrica, 112(2), 4 pages.
DOI Scopus1 Europe PMC1
2022 Rychkov, G. Y., Shaukat, Z., Lim, C. X., Hussain, R., Roberts, B. J., Bonardi, C. M., . . . Dibbens, L. M. (2022). Functional effects of Epilepsy associated KCNT1 mutations suggest pathogenesis via aberrant inhibitory neuronal activity. International Journal of Molecular Sciences, 23(23, article no. 15133), 1-14.
DOI Scopus10 WoS9 Europe PMC12
2021 Bonardi, C. M., Heyne, H. O., Fiannacca, M., Fitzgerald, M. P., Gardella, E., Gunning, B., . . . Rubboli, G. (2021). KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. Brain, 144(12), 3635-3650.
DOI Scopus65 Europe PMC55
2021 Courage, C., Oliver, K. L., Park, E. J., Cameron, J. M., Dibbens, L. M., & Lehesjoki, A. E. (2021). Progressive myoclonus epilepsies - residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. American Journal of Human Genetics, 108(4), 722-738.
DOI Scopus70 WoS64 Europe PMC63
2019 Rubboli, G., Plazzi, G., Picard, F., Nobili, L., Hirsch, E., Chelly, J., . . . Moller, R. S. (2019). Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations. Annals of clinical and translational neurology, 6(2), 386-391.
DOI Scopus35 WoS33 Europe PMC28
2017 Zhang, Y. H., Burgess, R., Malone, J. P., Glubb, G. C., Dibbens, L. M., & Scheffer, I. E. (2017). Genetic epilepsy with febrile seizures plus. Neurology, 89(12), 1210-1219.
DOI Scopus132 Europe PMC97
2017 Dibbens, L. M. (2017). Novel ID gene CSNK2B: the crossover from molecular diagnosis to research continues. Human mutation, 38(9), 1037.
DOI
2017 Hughes, J., Dawson, R., Tea, M., McAninch, D., Piltz, S., Jackson, D., . . . Thomas, P. (2017). Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling. Scientific Reports, 7(1), 12618-1-12618-15.
DOI Scopus51 WoS47 Europe PMC45
2016 Ricos, M. G., Hodgson, B. L., Pippucci, T., Saidin, A., Ong, Y. S., Heron, S. E., . . . Dibbens, L. M. (2016). Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Annals of Neurology, 79(1), 120-131.
DOI Scopus200 WoS181 Europe PMC159
2016 Bagnall, R., Crompton, D., Petrovski, S., Lam, L., Cutmore, C., Garry, S., . . . Semsarian, C. (2016). Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Annals of Neurology, 79(4), 522-534.
DOI Scopus223 WoS206 Europe PMC184
2016 Lim, C., Ricos, M., Dibbens, L., & Heron, S. (2016). KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. Journal of Medical Genetics, 53(4), 217-225.
DOI Scopus96 WoS85 Europe PMC79
2016 Afawi, Z., Oliver, K. L., Kivity, S., Mazarib, A., Blatt, I., Neufeld, M. Y., . . . Berkovic, S. F. (2016). Multiplex families with epilepsy: success of clinical and molecular genetic characterization. Neurology, 86(8), 713-722.
DOI Scopus23 WoS21 Europe PMC22
2016 Gardella, E., Becker, F., Møller, R., Schubert, J., Lemke, J., Larsen, L., . . . Weber, Y. (2016). Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Annals of Neurology, 79(3), 428-436.
DOI Scopus169 WoS145 Europe PMC131
2016 Gardella, E., Beniczky, S., Møller, R., Becker, F., Lemke, J., Syrbe, S., . . . Weber, Y. (2016). Reply. Annals of Neurology, 80(1), 168-169.
DOI
2016 Smith, N., Lipsett, J., Dibbens, L., & Heron, S. (2016). BRAT1-associated neurodegeneration: intra-familial phenotypic differences in siblings. American Journal of Medical Genetics, Part A, 170(11), 3033-3038.
DOI Scopus18 WoS15 Europe PMC16
2016 Dibbens, L. M., & Rubboli, G. (2016). GOSR2: a progressive myoclonus epilepsy gene. Epileptic disorders, 18(S2), 111-114.
DOI Scopus25 WoS14 Europe PMC15
2016 Dibbens, L., Schwake, M., Saftig, P., & Rubboli, G. (2016). SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. Epileptic disorders, 18(S2), S63-S72.
DOI Scopus31 Europe PMC23
2015 Damiano, J., Mullen, S., Hildebrand, M., Bellows, S., Lawrence, K., Arsov, T., . . . Berkovic, S. (2015). Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy. Epilepsy Research, 117, 70-73.
DOI Scopus6 WoS6 Europe PMC6
2015 Muona, M., Berkovic, S., Dibbens, L., Oliver, K., Maljevic, S., Bayly, M., . . . Lehesjoki, A. (2015). A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nature Genetics, 47(1), 39-46.
DOI Scopus261 WoS243 Europe PMC231
2015 Yamamoto, T., Shimojima, K., Sangu, N., Komoike, Y., Ishii, A., Abe, S., . . . Okumura, A. (2015). Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. PLoS One, 10(3), e0118946-1-e0118946-11.
DOI Scopus14 WoS10 Europe PMC13
2015 Møller, R., Heron, S., Larsen, L., Lim, C., Ricos, M., Bayly, M., . . . Dibbens, L. (2015). Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia, 56(9), e114-e120.
DOI Scopus135 WoS125 Europe PMC110
2015 Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., . . . Mefford, H. C. (2015). Epileptic spasms are a feature of DEPDC5 mTORopathy. Neurology: Genetics, 1(2), 1-8.
DOI Scopus73 WoS60
2015 Scerri, T., Riseley, J. R., Gillies, G., Pope, K., Burgess, R., Mandelstam, S. A., . . . Leventer, R. J. (2015). Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. Annals of Clinical and Translational Neurology, 2(5), 575-580.
DOI Scopus94 Europe PMC73
2014 Yip, T., O'Doherty, C., Tan, N., Dibbens, L., & Suppiah, V. (2014). SCN1A variations and response to multiple antiepileptic drugs. Pharmacogenomics Journal, 14(4), 385-389.
DOI Scopus24 WoS22 Europe PMC22
2014 Carvill, G., Weckhuysen, S., McMahon, J., Hartmann, C., Møller, R., Hjalgrim, H., . . . Mefford, H. (2014). GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome. Neurology, 82(14), 1245-1253.
DOI Scopus245 WoS220 Europe PMC194
2014 Kim, Y., Bellows, S., Mcmahon, J., Iona, X., Damiano, J., Dibbens, L., . . . Scheffer, I. (2014). Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. Developmental Medicine and Child Neurology, 56(1), 85-90.
DOI Scopus15 Europe PMC12
2014 Milligan, C., Li, M., Gazina, E., Heron, S., Nair, U., Trager, C., . . . Petrou, S. (2014). KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Annals of Neurology, 75(4), 581-590.
DOI Scopus236 WoS219 Europe PMC195
2014 Vadlamudi, L., Milne, R., Lawrence, K., Heron, S., Eckhaus, J., Keay, D., . . . Berkovic, S. (2014). Genetics of epilepsy: the testimony of twins in the molecular era. Neurology, 83(12), 1042-1048.
DOI Scopus67 WoS55 Europe PMC51
2014 Puskarjov, M., Seja, P., Heron, S., Williams, T., Ahmad, F., Iona, X., . . . Kaila, K. (2014). A variant of KCC2 from patients with febrile seizures impairs neuronal Cl ‾ extrusion and dendritic spine formation. EMBO Reports, 15(6), 723-729.
DOI Scopus158 WoS144 Europe PMC135
2014 Scheffer, I., Heron, S., Regan, B., Mandelstam, S., Crompton, D., Hodgson, B., . . . Dibbens, L. (2014). Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Annals of Neurology, 75(5), 782-787.
DOI Scopus208 WoS187 Europe PMC157
2013 Mulley, J., Hodgson, B., McMahon, J., Iona, X., Bellows, S., Mullen, S., . . . Dibbens, L. (2013). Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Epilepsia, 54(9), 122-126.
DOI Scopus63 WoS58 Europe PMC54
2013 Lomax, L., Bayly, M., Hjalgrim, H., Moller, R., Vlaar, A., Aaberg, K., . . . Berkovic, S. (2013). 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. Brain, 136(4), 1146-1154.
DOI Scopus67 WoS57 Europe PMC42
2013 Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., Chintawar, S., . . . Scheffer, I. (2013). Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nature Genetics, 45(5), 546-551.
DOI Scopus328 WoS287 Europe PMC253
2013 Heron, S., Ong, Y., Yendle, S., McMahon, J., Berkovic, S., Scheffer, I., & Dibbens, L. (2013). Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Epilepsia, 54(5), e86-e89.
DOI Scopus16 WoS10 Europe PMC10
2013 Heron, S., & Dibbens, L. (2013). Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. Journal of Medical Genetics, 50(3), 133-139.
DOI Scopus93 WoS77 Europe PMC67
2013 Kim, Y., Dibbens, L., Marini, C., Suls, A., Chemaly, N., Mei, D., . . . Scheffer, I. (2013). Do mutations in SCN1B cause Dravet syndrome?. Epilepsy Research, 103(1), 97-100.
DOI Scopus12 Europe PMC13
2013 Mullen, S., Carvill, G., Bellows, S., Bayly, M., Berkovic, S., Dibbens, L., . . . Mefford, H. (2013). Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology, 81(17), 1507-1514.
DOI Scopus141 WoS129 Europe PMC114
2013 Okumura, A., Shimojima, K., Kubota, T., Abe, S., Yamashita, S., Imai, K., . . . Yamamoto, T. (2013). PRRT2 mutation in Japanese children with benign infantile epilepsy. Brain and Development, 35(7), 641-646.
DOI Scopus32 WoS30 Europe PMC27
2013 Gleich, K., Desmond, M. J., Lee, D., Berkovic, S. F., Dibbens, L. M., Katerlos, M., . . . Power, D. A. (2013). Abnormal processing of autophagosomes in transformed B lymphocytes form SCARB2-deficient subjects. BioResearch open access, 2(1), 40-46.
DOI Scopus9 WoS10
2013 Klein, K., Bromhead, C., Smith, K., O'Callaghan, C., Corcoran, S., Heron, S., . . . Berkovic, S. (2013). Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26. Neurology, 80(16), 1485-1493.
DOI Scopus20 WoS17 Europe PMC14
2012 Steffens, M., Leu, C., Ruppert, A., Zara, F., Striano, P., Robbiano, A., . . . Schulz, H. (2012). Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Human Molecular Genetics, 21(24), 5359-5372.
DOI Scopus135 WoS132 Europe PMC112
2012 Perandones, C., Micheli, F. E., Pellene, L. A., Bayly, M. A., Berkovic, S. F., & Dibbens, L. M. (2012). A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2. Movement disorders, 27(9), 1200-1201.
DOI Scopus16 WoS16 Europe PMC15
2012 Carranza Rojo, D., Simon Harvey, A., Iona, X., Dibbens, L., Damiano, J., Arsov, T., . . . Scheffer, I. (2012). Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations. Epilepsy Research, 100(1-2), 194-198.
DOI Scopus12 WoS10 Europe PMC7
2012 Heron, S., Smith, K., Bahlo, M., Nobili, L., Kahana, E., Licchetta, L., . . . Dibbens, L. (2012). Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nature Genetics, 44(11), 1188-1190.
DOI Scopus345 WoS309 Europe PMC300
2012 Scheffer, I., Grinton, B., Heron, S., Kivity, S., Afawi, Z., Iona, X., . . . Dibbens, L. (2012). PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology, 79(21), 2104-2108.
DOI Scopus79 WoS65 Europe PMC60
2012 Dibbens, L., Hodgson, B., Helbig, K., Oliver, K., Mulley, J., Berkovic, S., & Scheffer, I. (2012). Rare protein sequence variation in SV2A gene does not affect response to levetiracetam. Epilepsy Research, 101(3), 277-279.
DOI Scopus11 WoS9 Europe PMC8
2012 Heron, S., Grinton, B., Kivity, S., Afawi, Z., Zuberi, S., Hughes, J., . . . Dibbens, L. (2012). PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. American Journal of Human Genetics, 90(1), 152-160.
DOI Scopus246 WoS211 Europe PMC192
2011 Mulley, J., & Dibbens, L. (2011). Genetic variations and associated pathophysiology in the management of epilepsy. The Application of Clinical Genetics, 4, 113-125.
DOI Scopus4 WoS4 Europe PMC4
2011 Mulley, J., Scheffer, I., Desai, T., Bayly, M., Grinton, B., Vears, D., . . . Dibbens, L. (2011). Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes. Epilepsia, 52(10), e139-e142.
DOI Scopus11 WoS8 Europe PMC6
2011 Carranza Rojo, D., Hamiwka, L., McMahon, J., Dibbens, L., Arsov, T., Suls, A., . . . Scheffer, I. (2011). De novo SCN1A mutations in migrating partial seizures of infancy. Neurology, 77(4), 380-383.
DOI Scopus92 WoS83 Europe PMC78
2011 Corbett, M., Schwake, M., Bahlo, M., Dibbens, L., Lin, M., Gandolfo, L., . . . Berkovic, S. (2011). A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. American Journal of Human Genetics, 88(5), 657-663.
DOI Scopus104 WoS95 Europe PMC84
2011 Dibbens, L., Kneen, R., Bayly, M., Heron, S., Arsov, T., Damiano, J., . . . Scheffer, I. (2011). Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology, 76(17), 1514-1519.
DOI Scopus47 WoS42 Europe PMC37
2011 Mulley, J., Iona, X., Hodgson, B., Heron, S., Berkovic, S., Scheffer, I., & Dibbens, L. (2011). The role of seizure-related SEZ6 as a susceptibility gene in febrile seizures. Neurology Research International, 2011(917565), 1-4.
DOI Scopus18 WoS20 Europe PMC21
2011 Mulley, J. C., Heron, S. E., Wallace, R. H., Gecz, J., & Dibbens, L. M. (2011). "Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!. Epilepsia, 52(9), 1757-1758.
DOI Scopus2 WoS1 Europe PMC1
2011 Mulley, J. C., Heron, S. E., & Dibbens, L. M. (2011). Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies. Epilepsia, 52(3), 649-650.
DOI Scopus9 WoS8 Europe PMC7
2011 Rubboli, G., Franceschetti, S., Berkovic, S., Canafoglia, L., Gambardella, A., Dibbens, L., . . . Michelucci, R. (2011). Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations. Epilepsia, 52(12), 2356-2363.
DOI Scopus57 Europe PMC43
2011 Dibbens, L. M., Karakis, I., Bayly, M. A., Costello, D. J., Cole, A. J., & Berkovic, S. F. (2011). Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. Archives of Neurology, 68(6), 812-813.
DOI Scopus29 Europe PMC24
2010 Bahlo, M., Jolly, L., Afawi, Z., Gardner, A., Oliver, K., Tan, S., . . . Corbett, M. (2010). A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. American Journal of Human Genetics, 87(3), 371-375.
DOI Scopus108 WoS104 Europe PMC97
2010 Vadlamudi, L., Dibbens, L., Lawrence, K., Iona, X., McMahon, J., Murrell, W., . . . Berkovic, S. (2010). Timing of de novo mutagenesis - A twin study of sodium-channel mutations. New England Journal of Medicine, 363(14), 1335-1340.
DOI Scopus92 WoS80 Europe PMC75
2010 McMahon, J., Scheffer, I., Nicholl, J., Waters, W., Eyre, H., Hinton, L., . . . Mulley, J. (2010). Detection of microchromosomal aberrations in refractory epilepsy: a pilot study. Epileptic Disorders, 12(3), 192-198.
DOI Scopus14 WoS14 Europe PMC14
2010 Scheffer, I., Zhang, Y., Gecz, J., & Dibbens, L. (2010). Genetics of the epilepsies: Genetic twists in the channels and other tales. Epilepsia, 51(s1), 33-36.
DOI Scopus8 WoS5 Europe PMC6
2010 McIntosh, A., McMahon, J., Dibbens, L., Iona, X., Mulley, J., Scheffer, I., & Berkovic, S. (2010). Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. The Lancet Neurology, 9(6), 592-598.
DOI Scopus127 WoS98 Europe PMC81
2010 Dibbens, L., Reid, C., Hodgson, B., Thomas, E., Phillips, A., Gazina, E., . . . Petrou, S. (2010). Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. Annals of Neurology, 67(4), 542-546.
DOI Scopus99 WoS90 Europe PMC83
2010 Hynes, K., Tarpey, P., Dibbens, L., Bayly, M., Berkovic, S., Smith, R., . . . Scheffer, I. (2010). Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of Medical Genetics, 47(3), 211-216.
DOI Scopus70 WoS61 Europe PMC55
2009 Dibbens, L., Harkin, L., Richards, M., Hodgson, B., Clarke, A., Petrou, S., . . . Mulley, J. (2009). The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies. Neuroscience Letters, 453(3), 162-165.
DOI Scopus35 WoS31 Europe PMC30
2009 Marini, C., Scheffer, I., Nabbout, R., Mei, D., Cox, K., Dibbens, L., . . . Mulley, J. (2009). SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis. Epilepsia, 50(7), 1670-1678.
DOI Scopus159 WoS126 Europe PMC113
2009 Scheffer, I., Zhang, Y., Jansen, F., & Dibbens, L. (2009). Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?. Brain & Development, 31(5), 394-400.
DOI Scopus150 Europe PMC110
2009 Sijben, A., Sithinamsuwan, P., Radhakrishnan, A., Badawy, R., Dibbens, L., Mazarib, A., . . . Scheffer, I. (2009). Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?. Epilepsia, 50(4), 953-956.
DOI Scopus22 Europe PMC13
2009 Mulley, J., & Dibbens, L. (2009). Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way. Genome Medicine, 1(33), 1-5.
DOI Scopus22 WoS16 Europe PMC14
2009 Dibbens, L., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M., . . . Berkovic, S. (2009). SCARB2 Mutations in Progressive Myoclonus Epilepsy (PME) Without Renal Failure. Annals of Neurology, 66(4), 532-536.
DOI Scopus84 WoS72 Europe PMC68
2009 Dibbens, L., Mullen, S., Helbig, I., Mefford, H., Bayly, M., Bellows, S., . . . Berkovic, S. (2009). Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Human Molecular Genetics, 18(19), 3626-3631.
DOI Scopus208 WoS189 Europe PMC160
2008 Helbig, I., Matigian, N., Vadlamudi, L., Lawrence, K., Bayly, M., Bain, S., . . . Hayward, N. (2008). Gene expression analysis in absence epilepsy using a monozygotic twin design. Epilepsia, 49(9), 1546-1554.
DOI Scopus26 WoS22 Europe PMC20
2008 Dibbens, L., Tarpey, P., Hynes, K., Bayly, M., Scheffer, I., Smith, R., . . . Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nature Genetics, 40(6), 776-781.
DOI Scopus390 WoS350 Europe PMC317
2008 Scheffer, I., Turner, S., Dibbens, L., Bayly, M., Friend, K., Hodgson, B., . . . Berkovic, S. (2008). Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain, 131(Part 4), 918-927.
DOI Scopus153 WoS133 Europe PMC105
2008 Berkovic, S., Dibbens, L., Oshlack, A., Silver, J., Katerelos, M., Vears, D., . . . Bahlo, M. (2008). Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. American Journal of Human Genetics, 82(3), 673-684.
DOI Scopus224 WoS195 Europe PMC176
2007 Tan, H., Reid, C., Single, F., Davies, P., Chiu, C., Murphy, S., . . . Petrou, S. (2007). Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. Proceedings of the National Academy of Sciences of the United States of America, 104(44), 17536-17541.
DOI Scopus180 WoS169 Europe PMC161
2007 Dibbens, L., Ekberg, J., Taylor, I., Hodgson, B., Conroy, S., Lensink, I., . . . Poronnik, P. (2007). NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity. Genes, Brain and Behavior, 6(8), 750-755.
DOI Scopus48 WoS49 Europe PMC45
2007 Heron, S., Scheffer, I., Berkovic, S., Dibbens, L., & Mulley, J. (2007). Channelopathies in idiopathic epilepsy. Neurotherapeutics, 4(2), 295-304.
DOI Scopus105 WoS87 Europe PMC83
2007 Taylor, I., Hodgson, B., Scheffer, I., Mulley, J., Berkovic, S., & Dibbens, L. (2007). Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?. Epilepsia, 48(9), 1807-1809.
DOI Scopus9 Europe PMC7
2007 Harkin, L., McMahon, J., Iona, X., Dibbens, L., Pelekanos, J., Zuberi, S., . . . Scheffer, I. (2007). The spectrum of SCNIA-related infantile epileptic encephalopathies. Brain, 130(3), 843-852.
DOI Scopus464 WoS414 Europe PMC339
2007 Scheffer, I., Harkin, L., Grinton, B., Dibbens, L., Turner, S., Zielinski, M., . . . Berkovic, S. (2007). Temporal lobe epilepsy and GEFS(+) phenotypes associated with SCN1B mutations. Brain, 130(1), 100-109.
DOI Scopus252 WoS218 Europe PMC192
2007 Dibbens, L. M., Heron, S. E., & Mulley, J. (2007). A polygenic heterogeneity model for common epilepsies with complex genetics. Genes, Brain and Behavior, 6(7), 593-597.
DOI Scopus53 WoS43 Europe PMC39
2006 Scheffer, I., Harkin, L., Dibbens, L., Mulley, J., & Berkovic, S. (2006). Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). CNS Spectrums: the international journal of neuropsychiatric, 11(2SU Suppl 2), 43-49.
2006 Mulley, J., Nelson, P., Guerrero, S., Dibbens, L., Iona, X., McMahon, J., . . . Scheffer, I. (2006). A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A. Neurology, 67(6), 1094-1095.
DOI Scopus100 WoS85 Europe PMC73
2006 Feng, H., Kang, J., Song, L., Dibbens, L., Mulley, J., & Macdonald, R. (2006). delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha 4 beta 2 delta GABA(A) receptors. Journal of Neuroscience, 26(5), 1499-1506.
DOI Scopus78 Europe PMC69
2005 Scheffer, I., Harkin, L., Dibbens, L., Mulley, J., & Berkovic, S. (2005). Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia, 46(S10), 41-47.
DOI Scopus55 WoS43 Europe PMC33
2005 Mulley, J., Scheffer, I., Harkin, L., Berkovic, S., & Dibbens, L. (2005). Susceptibility genes for complex epilepsy. Human Molecular Genetics, 14(SI Sp. Iss. 2), R243-R249.
DOI Scopus92 WoS76 Europe PMC64
2005 Mulley, J., Scheffer, I., Petrou, S., Dibbens, L., Berkovic, S., & Harkin, L. (2005). SCN1A mutations and epiliepsy. Human Mutation, 25(6), 535-542.
DOI Scopus325 WoS281 Europe PMC250
2004 Dibbens, L., Feng, H., Richards, M., Harkin, L., Hodgson, B., Scott, D., . . . Mulley, J. (2004). GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Human Molecular Genetics, 13(13), 1315-1319.
DOI Scopus307 WoS282 Europe PMC246
2004 Marini, C., Scheffer, I., Crossland, K., Grinton, B., Phillips, F., McMahon, J., . . . Berkovic, S. (2004). Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families. Epilepsia, 45(5), 467-478.
DOI Scopus129 WoS117 Europe PMC99
2003 Wallace, R., Hodgson, B., Grinton, B., Gardiner, R., Robinson, R., Rodriguez-Casero, V., . . . Scheffer, I. (2003). Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology, 61(6), 765-769.
DOI Scopus180 WoS160 Europe PMC133
2002 Harkin, L., Bowser, D., Dibbens, L., Singh, R., Phillips, F., Wallace, R., . . . Petrou, S. (2002). Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus. American Journal of Human Genetics, 70(2), 530-536.
DOI Scopus416 WoS357 Europe PMC306
2001 Wallace, R., Scheffer, I., Barnett, S., Richards, M., Dibbens, L., Desai, R., . . . Berkovic, S. (2001). Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus. American Journal of Human Genetics, 68(4), 859-865.
DOI Scopus332 WoS278 Europe PMC243
1999 Prokopenko, S., Brumby, A., O'Keefe, L., Prior, L., He, Y., Saint, R., & Bellen, H. (1999). A putative exchange factor for Rho1 GTPase is required for initiation of cytokinesis in Drosophila. Genes and Development, 13(17), 2301-2314.
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1995 Hime, G., Prior, L., & Saint, R. (1995). The Drosophila melanogaster genome contains a member of the Rh/T2/S-glycoprotein family of ribonuclease-encoding genes. Gene, 158(2), 203-207.
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Year Citation
2007 Scheffer, I., Dibbens, L., Berkovic, S., & Mulley, J. (2007). What is the role of genetics in epilepsy?. In Sanjay Sisodiya (Ed.), Genetics of epilepsy: Epilepsy Research Foundation workshop report Vol. 9 (pp. 196-197). 127 Ave de La Republique Montrouge France 92120: John Libbey Eurotext Ltd.
Scopus2
2006 Scheffer, I. E., Harkin, L. A., Dibbens, L. M., Mulley, J. C., & Berkovic, S. F. (2006). Neonatal epilepsy syndromes and generalized epilepsy with febrile plus (GEFS+). In CNS Spectrums Vol. 11 (pp. 43-49).

Year Citation
2014 Dibbens, L. M., Scheffer, I. E., Regan, B. M., Mandelstam, S., Crompton, D. E., Hodgson, B. L., . . . Heron, S. E. (2014). MUTATIONS IN DEPDC5 ARE A MAJOR CAUSE OF LESIONAL AND NON-LESIONAL FOCAL EPILEPSY. Poster session presented at the meeting of EPILEPSIA. Stockholm, SWEDEN: WILEY-BLACKWELL.
2013 Lomax, L. B., Bayly, M., Hjalgrim, H., Moller, R., Vlaar, A. M., Aaberg, K., . . . Berkovic, S. (2013). 'North Sea' Progressive Myoclonus Epilepsy: Phenotype of Subjects with <i>GOSR2</i> Mutation. Poster session presented at the meeting of NEUROLOGY. San Diego, CA: LIPPINCOTT WILLIAMS & WILKINS.

  • Establishment of a Neuro-vascular Biobank to study the pathogenetic basis of surgical neurovascular disease and support the development of targeted treatments , Neurosurgical Research Foundation, 30/08/2021 - 31/12/2026

  • The identification of new epilepsy genes by whole genome sequencing, NHMRC - Project Grant, 01/01/2017 - 31/12/2022

  • Identifying the Genetic Causes of Epilepsy, NHMRC - Research Fellowship, 01/01/2016 - 31/12/2022

  • Identifying new genetic causes of neuromuscular disorders, Muscular Dystrophy South Australia, 11/10/2016 - 30/06/2018

  • Exploring the role of DEPDC5 mutations in childhood brain abnormalities, Channel 7 Children's Research Foundation of SA, 01/01/2016 - 31/12/2017

  • Genetic analysis of Gaucher Disease, University of Cambridge, 14/04/2015 - 30/09/2017

Date Role Research Topic Program Degree Type Student Load Student Name
2025 Principal Supervisor - Doctor of Philosophy Doctorate Full Time Sharmeen Saqib
2018 Principal Supervisor - Doctor of Philosophy Doctorate Full Time Mr Akzam Syukri Saidin
2016 Principal Supervisor - Master of Philosophy Master Full Time Ms Natasha Jane Radcliffe

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