Leanne M Dibbens

Leanne M Dibbens

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Leanne M Dibbens

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Novel ID gene CSNK2B: The crossover from molecular diagnosis to research continues.

Authors:
Leanne M Dibbens

Hum Mutat 2017 09;38(9):1037

University of South Australia.

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http://dx.doi.org/10.1002/humu.23305DOI Listing
September 2017

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Neurology 2017 Sep 25;89(12):1210-1219. Epub 2017 Aug 25.

From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000004384DOI Listing
September 2017

BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.

Am J Med Genet A 2016 11 2;170(11):3033-3038. Epub 2016 Aug 2.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.37853
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http://dx.doi.org/10.1002/ajmg.a.37853DOI Listing
November 2016

GOSR2: a progressive myoclonus epilepsy gene.

Epileptic Disord 2016 Sep;18(S2):111-114

Danish Epilepsy Center, Filadelfia/University of Copenhagen, Dianalund, Denmark, IRCCS, Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy.

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http://dx.doi.org/10.1684/epd.2016.0848DOI Listing
September 2016

Reply.

Ann Neurol 2016 07 10;80(1):168-9. Epub 2016 May 10.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/ana.24669DOI Listing
July 2016

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

J Med Genet 2016 Apr 6;53(4):217-25. Epub 2016 Jan 6.

Epilepsy Research Group, School of Pharmacy and Medical Sciences, Sansom Institute for Health Research and Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2015-103508DOI Listing
April 2016

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Neurology 2016 Feb 22;86(8):713-22. Epub 2016 Jan 22.

From the Sackler School of Medicine (Z.A., I.B., M.Y.N., T.L.-S., A.D.K.), Tel Aviv University, Ramat Aviv, Israel; Epilepsy Research Centre (K.L.O., K.L.H., I.E.S., S.F.B.), University of Melbourne, Austin Health, Heidelberg, Australia; Epilepsy Unit (S.K., H.G.-S., R.S.), Schneider Children's Medical Center of Israel, Petach Tikvah; Department of Neurology (A.M., M.Y.N.), Tel Aviv Sourasky Medical Center; Department of Neurology (I.B.), The Chaim Sheba Medical Center, Tel Hashomer; Shaare Zedek Medical Center (A.J.M.), Jerusalem; Department of Neurology (S.W.), Western Galilee Hospital, Nahariya; Pediatric Neurology and Child Development Center (M. Mahajnah), Hillel Yaffe Medical Center, Hadera; Ruth and Bruce Rappaport Faculty of Medicine (M. Mahajnah), Technion, Haifa; Pediatric Neurology Unit (T.L.-S.), Wolfson Medical Center, Holon; The Edmond and Lily Safra Children's Hospital (B.B.-Z.), Sheba Medical Center, Ramat Gan; Department of Neurology (E.K.), Barzilai Medical Center, Ashkelon; Faculty of Health Sciences (E.K., R.M., Z.S.), Ben-Gurion University of the Negev, Beer-Sheva; Department of Neurology (R.M.) and Pediatric Neurology Unit (Z.S.), Soroka University Medical Center, Beer-Sheva; Pediatric Neurology Unit (U.K.), Dana Children's Hospital, Tel Aviv; Department of Neurology (D.E.), Agnes Ginges Center of Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; School of Biomedical Sciences (R.H.W.), Charles Sturt University, NSW; Queensland Brain Institute (M. Mangelsdorf), University of Queensland, Brisbane, Australia; Wessex Regional Genetics Laboratory (J.N.M.), Salisbury NHS Foundation Trust, Salisbury, UK; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Florey Institute (G.D.J., I.E.S.), Melbourne; Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute o

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http://dx.doi.org/10.1212/WNL.0000000000002404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763801PMC
February 2016

Genetics of epilepsy: The testimony of twins in the molecular era.

Neurology 2014 Sep 8;83(12):1042-8. Epub 2014 Aug 8.

From the Epilepsy Research Centre, Department of Medicine (Neurology) (L.V., K.L., J.E., D.K., M.C., Y.T.-B., R.A.H., I.E.S., S.F.B.), University of Melbourne, Austin Health; School of Medicine (L.V.), The University of Queensland, Brisbane; Department of Neurology (L.V.), Royal Brisbane and Women's Hospital; Centre for Molecular, Environmental, Analytic and Genetic Epidemiology (R.L.M., J.L.H.), University of Melbourne; School of Pharmacy and Medical Sciences and Sansom Institute for Health Research (S.E.H., L.M.D.), University of South Australia, Adelaide; and the Department of Genetic Medicine, SA Pathology (J.C.M.), Women's and Children's Hospital, North Adelaide, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000000790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166361PMC
September 2014

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

Ann Neurol 2014 May 14;75(5):782-7. Epub 2014 Apr 14.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ana.24126DOI Listing
May 2014

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Neurology 2014 Apr 12;82(14):1245-53. Epub 2014 Mar 12.

From the Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.H., J.C., E.G., H.C.M.), and the Department of Genome Sciences (J.S.), University of Washington, Seattle; Neurogenetics Group (S.W.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Epilepsy Research Centre (J.M.M., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neuropediatrics (C.H., H.M., S.v.S., I.H.), University Medical Center, Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Danish Epilepsy Centre (R.S.M., H.H., M.N.), Dianalund; Institute for Regional Health Services (H.H., M.N.), University of Southern Denmark, Odense, Denmark; Department of Molecular and Medical Genetics (B.J.O.), Oregon Health and Science University, Portland; Florey Institute (S.P., A.C., E.V.G., I.E.S.), Victoria; TY Nelson Department of Neurology (D.G.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Paediatrics (L.G.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Epilepsy Research Program (B.L.H., L.M.D.), School of Pharmacy and Medical Sciences, University of South Australia, Adelaide; Division of Neurology (P.D.J.), Antwerp University Hospital, Belgium; and the Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000029
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http://dx.doi.org/10.1212/WNL.0000000000000291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001207PMC
April 2014

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Neurology 2013 Oct 25;81(17):1507-14. Epub 2013 Sep 25.

From the Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Epilepsy Research Centre, Department of Medicine, Austin and Northern Health (S.B., S.F.B., I.E.S.), and Department of Paediatrics, Royal Children's Hospital (I.E.S.), University of Melbourne, Australia; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; and Epilepsy Research Program, School of Pharmacy and Medical Sciences (M.A.B., L.M.D.), and Sansom Institute for Health Research (M.A.B., L.M.D.), University of South Australia, Adelaide.

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http://dx.doi.org/10.1212/WNL.0b013e3182a95829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888172PMC
October 2013

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Epilepsia 2013 Sep 29;54(9):e122-6. Epub 2013 Jul 29.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/epi.12323DOI Listing
September 2013

Genetic variations and associated pathophysiology in the management of epilepsy.

Appl Clin Genet 2011 8;4:113-25. Epub 2011 Aug 8.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, Australia ; School of Paediatrics and Reproductive Health, and School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.2147/TACG.S7407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681183PMC
June 2013

Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.

Epilepsia 2013 May 8;54(5):e86-9. Epub 2013 Apr 8.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/epi.12167DOI Listing
May 2013

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

J Med Genet 2013 Mar 23;50(3):133-9. Epub 2013 Jan 23.

School of Pharmacy and Medical Sciences, University of South Australia, P4-47, City East Campus, GPO Box 2471, Adelaide, SA 5001, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2012-101406DOI Listing
March 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
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http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

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

Nat Genet 2012 Nov 21;44(11):1188-90. Epub 2012 Oct 21.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.

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http://dx.doi.org/10.1038/ng.2440DOI Listing
November 2012

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam.

Epilepsy Res 2012 Sep 30;101(3):277-9. Epub 2012 Apr 30.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S09201211120010
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http://dx.doi.org/10.1016/j.eplepsyres.2012.04.007DOI Listing
September 2012

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.

Epilepsy Res 2012 Jun 3;100(1-2):194-8. Epub 2012 Mar 3.

Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.02.007DOI Listing
June 2012

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.

Neurol Res Int 2011 16;2011:917565. Epub 2011 Jul 16.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, SA 5006, Australia.

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http://www.hindawi.com/journals/nri/aip/917565.pdf
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http://www.hindawi.com/journals/nri/2011/917565/
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http://dx.doi.org/10.1155/2011/917565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139179PMC
November 2011

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes.

Epilepsia 2011 Oct 21;52(10):e139-42. Epub 2011 Jul 21.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03188.xDOI Listing
October 2011

Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.

Arch Neurol 2011 Jun;68(6):812-3

Epilepsy Research Program, South Australia Pathology at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneurol.2011.120DOI Listing
June 2011

Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies.

Epilepsia 2011 Mar;52(3):649-50

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02953.xDOI Listing
March 2011

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study.

Epileptic Disord 2010 Sep 19;12(3):192-8. Epub 2010 Jul 19.

Department of Medicine, University of Melbourne, Australia.

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http://dx.doi.org/10.1684/epd.2010.0326DOI Listing
September 2010

Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

N Engl J Med 2010 Sep;363(14):1335-40

Epilepsy Research Center, Austin Health, University of Melbourne, Melbourne, VIC, Australia.

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http://www.nejm.org/doi/abs/10.1056/NEJMoa0910752
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http://dx.doi.org/10.1056/NEJMoa0910752DOI Listing
September 2010

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.

Lancet Neurol 2010 Jun 4;9(6):592-8. Epub 2010 May 4.

Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1016/S1474-4422(10)70107-1DOI Listing
June 2010

Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way.

Genome Med 2009 Mar 25;1(3):33. Epub 2009 Mar 25.

Epilepsy Research Program, Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1186/gm33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664944PMC
March 2009

Gene expression analysis in absence epilepsy using a monozygotic twin design.

Epilepsia 2008 Sep 24;49(9):1546-54. Epub 2008 Apr 24.

Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01630.xDOI Listing
September 2008

Channelopathies in idiopathic epilepsy.

Neurotherapeutics 2007 Apr;4(2):295-304

Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia 5006.

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http://www.neuro.it/documents/materiale%20didattico_Siena_20
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http://link.springer.com/10.1016/j.nurt.2007.01.009
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http://dx.doi.org/10.1016/j.nurt.2007.01.009DOI Listing
April 2007

Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).

Epilepsia 2005 ;46 Suppl 10:41-7

Department of Medicine (Neurology), The University of Melbourne, Austin Health, Melbourne, Victoria.

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http://dx.doi.org/10.1111/j.1528-1167.2005.00358.xDOI Listing
January 2006

Susceptibility genes for complex epilepsy.

Hum Mol Genet 2005 Oct;14 Spec No. 2:R243-9

Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://academic.oup.com/hmg/article/14/suppl_2/R243/663294/S
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http://dx.doi.org/10.1093/hmg/ddi355DOI Listing
October 2005

SCN1A mutations and epilepsy.

Hum Mutat 2005 Jun;25(6):535-42

Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/humu.20178DOI Listing
June 2005

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

Am J Hum Genet 2002 Feb 17;70(2):530-6. Epub 2001 Dec 17.

Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1086/338710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384926PMC
February 2002