2026 Leanne M. Dibbens: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Genetics	57	3406	3217	115	110	117	12685

Overview

Leanne M. Dibbens is affiliated with the University of South Australia in Australia. Their research spans several interconnected fields, focusing primarily on medicine and biochemistry, genetics, and molecular biology. Their body of work includes contributions to molecular biology, psychiatry and mental health, genetics, rheumatology, and cardiology and cardiovascular medicine.

Their main research topics cover epilepsy research and treatment, genetics and neurodevelopmental disorders, ion channel regulation and function, cardiac electrophysiology and arrhythmias, cannabis and cannabinoid research, genomics and rare diseases, as well as glycogen storage diseases and myoclonus.

Leanne M. Dibbens has authored multiple scientific papers, including:

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum (2021), published in Brain
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes (2021), published in The American Journal of Human Genetics
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity (2022), published in International Journal of Molecular Sciences
Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy (2024), published in Scientific Reports
Chromosomal Instability Causes Sensitivity to Polyamines and One-Carbon Metabolism (2023), published in Metabolites

They frequently publish in venues such as:

bioRxiv (Cold Spring Harbor Laboratory)
Brain
The American Journal of Human Genetics
International Journal of Molecular Sciences
Scientific Reports

Their frequent coauthors include Zeeshan Shaukat, Rashid Hussain, Michael G. Ricos, Grigori Y. Rychkov, and Anowarul Islam.

Best Publications

The spectrum of SCN1A-related infantile epileptic encephalopathies

Louise A Harkin;Jacinta M McMahon;Xenia Iona;Leanne Dibbens;Leanne Dibbens

591
Citations
Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus

Louise A Harkin;Louise A Harkin;David Nicholas Bowser;Leanne M Dibbens;Leanne M Dibbens;Rita Singh

582
Citations
Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

R.H. Wallace;R.H. Wallace;I.E. Scheffer;S. Barnett;M. Richards

470
Citations
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

Leanne M. Dibbens;Leanne M. Dibbens;Patrick S. Tarpey;Kim Hynes;Kim Hynes;Marta A. Bayly

467
Citations
SCN1A mutations and epilepsy.

John C. Mulley;Ingrid E. Scheffer;Steven Petrou;Leanne M. Dibbens;Leanne M. Dibbens

449
Citations
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Sarah E Heron;Katherine R Smith;Katherine R Smith;Melanie Bahlo;Melanie Bahlo;Lino Nobili

442
Citations
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

Leanne M. Dibbens;Hua-Jun Feng;Michaella C. Richards;Louise A. Harkin

434
Citations
Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne M Dibbens;Boukje de Vries;Simona Donatello;Sarah E Heron

401
Citations
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations

Ingrid E. Scheffer;Louise A. Harkin;Bronwyn E. Grinton;Leanne M. Dibbens

348
Citations
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona;Samuel F. Berkovic;Leanne M. Dibbens;Karen L. Oliver

341
Citations
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Sarah E. Heron;Bronwyn E. Grinton;Sara Kivity;Zaid Afawi

321
Citations
Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

Samuel F Berkovic;Samuel F Berkovic;Leanne M Dibbens;Leanne M Dibbens;Alicia Oshlack;Jeremy D Silver;Jeremy D Silver

314
Citations
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

Gemma L Carvill;Sarah Weckhuysen;Sarah Weckhuysen;Jacinta M McMahon;Corinna Hartmann;Corinna Hartmann

302
Citations
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

Carol J. Milligan;Melody Li;Elena V. Gazina;Sarah E. Heron

296
Citations
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Richard D. Bagnall;Douglas E. Crompton;Slavé Petrovski;Lien Lam

275
Citations
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

Ingrid E Scheffer;Sarah E Heron;Brigid M Regan;Simone A Mandelstam;Simone A Mandelstam

261
Citations
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Leanne M. Dibbens;Saul Mullen;Ingo Helbig;Heather C. Mefford

260
Citations
Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

R. H. Wallace;B. L. Hodgson;B. E. Grinton;R. M. Gardiner

241
Citations
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

Heneu O. Tan;Christopher A. Reid;Frank Nicolai Single;Philip J. Davies

232
Citations
Epilepsy and mental retardation limited to females: an under-recognized disorder.

Ingrid E. Scheffer;Samantha J. Turner;Leanne M. Dibbens;Marta A. Bayly

207
Citations

Frequent Co-Authors

Ingrid E. Scheffer University of Melbourne

Samuel F. Berkovic University of Melbourne

John C. Mulley Bangor University

Jozef Gecz University of Adelaide

Eva Andermann McGill University

Steven Petrou Florey Institute of Neuroscience and Mental Health

Melanie Bahlo Walter and Eliza Hall Institute of Medical Research

Rikke S. Møller University of Southern Denmark

Francesca Bisulli University of Bologna

Heather C. Mefford University of Washington

External Links

Personal website of Leanne M. Dibbens

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