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PROF INGRID SCHEFFER



Contact Details

Organization: Medicine - Austin Health
Position: CHAIR OF PAEDIATRIC NEUROLOGY RESEARCH
Email:
Work: (03) 9035 7112
Fax: (03) 9496 2291

Qualifications, Honours, Fellowships and Other Awards

Qualifications

Title Institution Date Awarded Abbreviation
Bachelor of Science Monash University 12-Dec-1983
Bachelor of Medicine Monash University 12-Dec-1983
Doctorate University of Melbourne 12-Dec-1998

Memberships

Membership Type Membership Body Description Start Date End Date
Member Epilepsy Society of Australia Drug Evaluation Committee Member 01-Jan-2007 01-Jan-2008
Member International Child Neurology Association Member 01-Jan-2007 01-Jan-2007
Member American Epilepsy Society Member 01-Jan-2007 01-Jan-2008
Member Royal Australasian College of Physicians Member 01-Jan-2007 01-Jan-2008
Member Australian Association of Neurologists Member 01-Jan-2007 01-Jan-2008
Member Australian Medical Association Member 01-Jan-2007 01-Jan-2008
Member NHMRC Association of Research Fellows Member 01-Jan-2007 01-Jan-2008
Member Australian Society of Medical Research Member 01-Jan-2007 01-Jan-2008
Member Asian and Oceanian Child Neurology Association Member 01-Jan-2007 01-Jan-2008
Member Epileptic Disorders Editorial Board Member 01-Jan-2007 01-Jan-2008
Member Annals of Neurology Editorial Board Member 01-Jan-2007 01-Jan-2008

Fellowships

Fellowship Date Awarded
Fellow of the Royal Australasian College of Physicians (FRACP) 12-Dec-1992

Other Awards

Award Type Awarding Body Comments Date Awarded
Other (Award) American Epilepsy Society Research Recognition Award for Clinical Research 03-Dec-2007
Other (Award) Royal Australasian College of Physicians Eric Susman Prize 21-Mar-2010
Other (Award) NHMRC Practitioner Fellowship 2001 - 2005 20-Nov-2000
Other (Award) The University of Melbourne Chancellor's Prize and Harbison-Higinbothan Research Scholarship 01-Dec-1998
Other (Award) NHMRC NHMRC Practitioner Fellowship (2011-2015)) 19-Nov-2010
Other (Award) L'Oreal-UNESCO For Women in Science 2012 Laureate for the Asia-Pacific region 04-Nov-2011

Government Research Classifications

Research Fields, Courses and Discipline Classifications

Socio-Economic Objective Classifications

Grants and Contracts

Research Grants, Contracts and Consultancies awarded to the University of Melbourne as the administering institution (since 2003) as recorded in Themis Agreements.

Grants

Title Role Funding Source Scheme Award Date
GENETICS OF GENERALIZED EPILEPSY Chief Investigator NHMRC Practitioner Fellowship 01/01/2001
Epilepsy: A collaborative research program from genome to patient Chief Investigator NHMRC Program Grants 01/01/2003
The genetics of focal epilepsies Principal Supervisor NHMRC Medical & Dental Postgraduate Scholarships 01/01/2004
Efficacy and tolerability of the ketogenic diet for specific epilepsy syndrome Chief Investigator PFIZER AUST PTY LTD Neuro Science Research Grants 01/01/2005
KETOGENIC DIET PROGRAM Chief Investigator TANITH & KEVIN O'BRIEN Research Grant 13/04/2005
Epilepsy: Molecular basis and mechanisms in the era of functional genomics Chief Investigator NHMRC Program Grants 01/01/2006
EPILEPSY RESEARCH Chief Investigator JOHN T REID CHARITABLE TRUSTS Research Grant 24/08/2006
FAMILY AND COMMUNITY STUDY OF THE GENETICS OF AUTISM SPECTRUM DISORDERS Principal Supervisor PFIZER AUST PTY LTD Neuro Science Research Grants 01/01/2007
Novel molecular and bioinformatic approaches facilitate epilepsy gene discovery Chief Investigator AMERICAN EPILEPSY SOCIETY Research Initiative Awards 19/01/2007
The genetics of speech disorders Chief Investigator PERPETUAL TRUSTEES AUST LTD Project Grants 03/07/2007
Clinical presentation of Autism Spectrum Disorders in families Chief Investigator NHMRC Project Grants 01/01/2009
THE EPILEPSY PHENOME/GENOME PROJECT (EPGP) Chief Investigator UNIVERSITY OF CALIFORNIA Research Project Grants (NATIONAL INSTITUTE OF HEALTH) 01/05/2009
GENETICS OF EPILEPSY Chief Investigator NHMRC Practitioner Fellowship 22/06/2010
EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS. Chief Investigator NHMRC Program Grants 01/01/2011
Investigating the causes of childhood speech disorder Chief Investigator SHEPHERD FOUNDATION NOMINEES PTY. LTD. Research Grants 01/01/2011
CLINICAL GENETICS STUDIES OF SPEECH AND LANGUAGE DISORDERS IN LARGE FAMILIES. Principal Supervisor NHMRC Scholarships 29/03/2011
Elucidating the neural pathways and genetic basis of speech Chief Investigator AUST RESEARCH COUNCIL Discovery Projects 01/01/2012

Contracts

Title Role Funding Source Award Date
EVALUATION OF EPILEPSY PHENOTYPES AND GENOTYPES SHOWING A DRAMATIC RESPONSE TO LEVETIRACETAM Chief Investigator UCB PHARMA 01/06/2005

Publications

Publications produced at the University of Melbourne and reported in the Annual Publications Collection and 'Research Report' since 2001. The Themis Publications module, released in November 2006, allows additional publications from previous institutions and publications from past years to be entered.

Publications in 2011

Journal Articles

  • A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence
    Year: 2011
    Journal: Neurology
    Volume: 76
    Issue: 16
    Page numbers: 1436-1438
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  • A novel GEFS+ locus on 12p13.33 in a large Roma family
    Year: 2011
    Journal: Epilepsy Research
    Volume: 97
    Issue: 1-2
    Page numbers: 198-207
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  • A retrospective population-based study on seizures related to childhood vaccination
    Year: 2011
    Journal: Epilepsia
    Volume: 52
    Issue: 8
    Page numbers: 1506-1512
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  • Autoantibodies and epilepsy
    Year: 2011
    Journal: Epilepsia
    Volume: 52
    Issue: 3
    Page numbers: 18-22
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  • De novo SCN1A mutations in migrating partial seizures of infancy
    Year: 2011
    Journal: Neurology
    Volume: 77
    Issue: 4
    Page numbers: 380-383
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  • Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology
    Year: 2011
    Journal: Brain
    Volume: 134
    Page numbers: 2982-3010
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  • Electroclinical features of absence seizures in sleep
    Year: 2011
    Journal: Epilepsy Research
    Volume: 93
    Issue: 2-3
    Page numbers: 216-220
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  • Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes
    Year: 2011
    Journal: Epilepsia
    Volume: 10
    Page numbers: E139-E142
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  • Milder phenotypes of glucose transporter type 1 deficiency syndrome
    Year: 2011
    Journal: Developmental Medicine and Child Neurology
    Volume: 53
    Page numbers: 664-668
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  • Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients
    Year: 2011
    Journal: Journal of Medical Genetics
    Volume: 48
    Page numbers: 1-9
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  • Rare copy number variants are an important cause of epileptic encephalopathies
    Year: 2011
    Journal: Annals of Neurology
    Volume: 70
    Page numbers: 974-985
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  • Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
    Year: 2011
    Journal: Neurology
    Volume: 76
    Page numbers: 1514-1519
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  • The genetics of Dravet syndrome
    Year: 2011
    Journal: Epilepsia
    Volume: 52
    Page numbers: 24-29
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Publications in 2010

Journal Articles

  • De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
    Year: 2010
    Journal: Journal of Medical Genetics
    Volume: 47
    Page numbers: 137-141
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  • Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients


    Year: 2010
    Journal: Brain
    Volume: 133
    Page numbers: 1415-1427
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  • A duplication in 1q21.3 in a family with early-onset and childhood absence epilepsy
    Year: 2010
    Journal: Epilepsia
    Volume: 51
    Issue: 12
    Page numbers: 2453-2456
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  • Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
    Year: 2010
    Journal: Neurology
    Volume: 75
    Issue: 5
    Page numbers: 432-440
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  • Augmented currents of an HCN2 variant in pateints with Febile Seizure Syndromes
    Year: 2010
    Journal: Annals of Neurology
    Volume: 67
    Page numbers: 542-546
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  • Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
    Year: 2010
    Journal: Neurology
    Volume: 75
    Page numbers: 1159-1165
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  • Copy number variants-an unexpected risk factor for the idiopathic generalized epilepsies
    Year: 2010
    Journal: Brain
    Volume: 133
    Page numbers: 7-8
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  • Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett Syndrom and related disorders
    Year: 2010
    Journal: Twin Research and Human Genetics
    Volume: 13
    Issue: 2
    Page numbers: 168-178
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  • Detection of microchromosomal aberrations in refractory epilepsy: a pilot study
    Year: 2010
    Journal: Epileptic Disorders
    Volume: 12
    Issue: 3
    Page numbers: 192-198
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  • Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.
    Year: 2010
    Journal: Lancet Neurology
    Volume: 9
    Page numbers: 592-98
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  • Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
    Year: 2010
    Journal: Journal of Medical Genetics
    Volume: 47
    Issue: 3
    Page numbers: 211-216
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  • Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance
    Year: 2010
    Journal: Brain
    Volume: 133
    Page numbers: 3221-3231
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  • Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3
    Year: 2010
    Journal: Epilepsia
    Volume: 51
    Issue: 9
    Page numbers: 1865-1869
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  • Focal epileptiform spikes do not show a canonical BOLD response in patients with benign rolandic epilepsy (BECTS)
    Year: 2010
    Journal: Neuroimage
    Volume: 51
    Page numbers: 252-260
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  • Genetic testing in the epilepsies-Report of the ILAE Genetics Commission
    Year: 2010
    Journal: Epilepsia
    Volume: 51
    Issue: 4
    Page numbers: 655-670
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  • Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family
    Year: 2010
    Journal: Epileptic Disorders
    Volume: 12
    Issue: 2
    Page numbers: 117-124
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  • Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?
    Year: 2010
    Journal: Epilepsia
    Volume: 51
    Issue: 2
    Page numbers: 293-296
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  • Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy
    Year: 2010
    Journal: Epilepsy and Behavior
    Volume: 17
    Page numbers: 531-535
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  • Optimizing Electroencephalographic Studies for Epilepsy Diagnosis in Children With New-Onset Seizures
    Year: 2010
    Journal: Archives of Neurology
    Volume: 67
    Issue: 11
    Page numbers: 1345-1349
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  • Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
    Year: 2010
    Journal: Brain
    Volume: 133
    Page numbers: 2964-2970
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  • Revised terminology and concepts for organization of seizures and epilepsies:  Report of the ILAE Commission on Classification and Terminology, 2005-2009
    Year: 2010
    Journal: Epilepsia
    Volume: 54
    Issue: 4
    Page numbers: 676-685
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  • The core network in absence epilepsy Differences in cortical and thalamic BOLD response
    Year: 2010
    Journal: Neurology
    Volume: 75
    Issue: 10
    Page numbers: 904-911
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  • Timing of De Novo Mutagenesis - A Twin Study of Sodium-Channel Mutations
    Year: 2010
    Journal: New England Journal of Medicine
    Volume: 363
    Issue: 14
    Page numbers: 1335-1340
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  • Whole-genome linkage scan for epilepsy-related photosensitivity:  A mega-analysis
    Year: 2010
    Journal: Epilepsy Research
    Volume: 89
    Page numbers: 286-294
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Publications in 2009

Journal Articles

  • 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment
    Year: 2009
    Journal: European Journal of Medical Genetics
    Volume: 52
    Page numbers: 440-442
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  • Automatisms in absence seizures in children with idiopathic generalized elipepsy
    Year: 2009
    Journal: Archives of Neurology
    Volume: 66
    Issue: 6
    Page numbers: 729-734
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  • Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
    Year: 2009
    Journal: Journal of Medical Genetics
    Volume: 46
    Page numbers: 123-131
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  • Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

    Year: 2009
    Journal: Epilepsia
    Volume: 50
    Issue: 4
    Page numbers: 953-956
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  • EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state
    Year: 2009
    Journal: Epilepsia
    Volume: 50
    Issue: 6
    Page numbers: 1572-1578
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  • Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
    Year: 2009
    Journal: Annals of Neurology
    Volume: 66
    Issue: 3
    Page numbers: 415-419
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  • Electroencephalographic abnormalities during sleep in children with developmental speech-language disorders: a case-control study.
    Year: 2009
    Journal: Developmental Medicine and Child Neurology
    Volume: 51
    Page numbers: 228-234
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  • Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
    Year: 2009
    Journal: Human Molecular Genetics
    Volume: 18
    Issue: 19
    Page numbers: 3626-3631
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  • Lack of replication of association between SCN1A SNP and febrile seizures
    Year: 2009
    Journal: Neurology
    Volume: 73
    Page numbers: 1928-1930
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  • Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS
    Year: 2009
    Journal: Epilepsia
    Page numbers: 2276-2284
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  • Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
    Year: 2009
    Journal: Neurology
    Volume: 72
    Page numbers: 784-792
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  • SCN1A duplications and deletions detected in Dravet syndrome:  Implications for molecular diagnosis
    Year: 2009
    Journal: Epilepsia
    Volume: 50
    Issue: 7
    Page numbers: 1670-1678
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  • The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies
    Year: 2009
    Journal: Neuroscience Letters
    Volume: 453
    Page numbers: 162-165
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  • Translational Research in Epilepsy Genetics Sodium Channels in Man to Interneuronopathy in Mouse
    Year: 2009
    Journal: Archives of Neurology
    Volume: 66
    Issue: 1
    Page numbers: 21-26
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Publications in 2008

Journal Articles

  • Association of a Nicotinic Receptor Mutation with Reduced Height and Blunted Physostigmine-Stimulated Growth Hormone Release
    Year: 2008
    Journal: Journal of Clinical Endocrinology & Metabolism
    Volume: 93
    Issue: 2
    Page numbers: 634-637
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  • Benign occipital epilepsies of childhood: clinical features and genetics
    Year: 2008
    Journal: Brain
    Volume: 131
    Page numbers: 2287-2294
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  • Classification and clinical features of absence epilepsies: how evidence leads to changing concepts

    Year: 2008
    Journal: Epilepsia
    Volume: 49
    Issue: 12
    Page numbers: 2140-2141
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  • Epilepsy and mental retardation limited to females: an under-recognized disorder
    Year: 2008
    Journal: Brain
    Volume: 131
    Page numbers: 918-927
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  • Factors influencing clinical features of absence seizures
    Year: 2008
    Journal: Epilepsia
    Volume: 49
    Issue: 12
    Page numbers: 2100-2107
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  • Gene expression analysis in absence epilepsy using a monozygotic twin design
    Year: 2008
    Journal: Epilepsia
    Volume: 49
    Issue: 9
    Page numbers: 1546-1554
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  • Human Nocturnal Frontal Lobe Epilepsy: Pharmocogenomic Profiles of Pathogenic Nicotinic Acetylcholine Receptor B-Subunit Mutations outside the Ion Channel Pore
    Year: 2008
    Journal: Molecular Pharmacology
    Volume: 74
    Issue: 2008
    Page numbers: 379-391
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  • Multifocal epilepsy: the role of palliative resection - intractable frontal and occipital lobe epilepsy secondary to radiotherapy for acute lymphoblastic leukaemia
    Year: 2008
    Journal: Epileptic Disorders
    Volume: 10
    Issue: 4
    Page numbers: 362-70
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  • Navigating the channels and beyond: unravelling the genetics of the epilepsies
    Year: 2008
    Journal: The Lancet Neurology
    Volume: 7
    Issue: 2008
    Page numbers: 231-245
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  • Reduced striatal D1 receptor binding in autosomal dominant noctural frontal lobe epilepsy
    Year: 2008
    Journal: Neurology
    Volume: 71
    Page numbers: 795-798
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  • Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability
    Year: 2008
    Journal: Epilepsia
    Volume: 49
    Issue: 5
    Page numbers: 2125-2129
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  • X-linked protocadherin 19 mutations cause femalelimited epilepsy and cognitive impairment

    Year: 2008
    Journal: Nature Genetics
    Volume: 40
    Issue: 6
    Page numbers: 776-781
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Publications in 2007

Journal Articles

  • NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity
    Year: 2007
    Journal: Genes, Brain and Behavior
    Volume: 6
    Page numbers: 750-755
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  • Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy


    Year: 2007
    Journal: Epilepsy Research
    Volume: 76
    Issue: 1
    Page numbers: 41-48
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  • Association studies and functional validation or functional validation alone?


    Year: 2007
    Journal: Epilepsy Research
    Volume: 74
    Issue: 2-3
    Page numbers: 237-238
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  • Channelopathies in Idiopathic Epilepsy


    Year: 2007
    Journal: Neurotherapeutics
    Volume: 4
    Issue: 2
    Page numbers: 295-304
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  • Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants


    Year: 2007
    Journal: Annals of Neurology
    Volume: 62
    Issue: 6
    Page numbers: 560-568
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  • GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children


    Year: 2007
    Journal: Epileptic Disorders
    Volume: 9
    Issue: 3
    Page numbers: 307-314
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  • Is Photosensitive Epilepsy Less Common in Males Due to Variation in X Chromosome Photopigment Genes?


    Year: 2007
    Journal: Epilepsia
    Volume: 48
    Issue: 9
    Page numbers: 1807-1809
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  • A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy
    Year: 2007
    Journal: Epilepsia
    Volume: 48
    Issue: 4
    Page numbers: 706-712
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  • A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel
    Year: 2007
    Journal: Molecular and Cellular Neurosciences
    Volume: 35
    Issue: 2
    Page numbers: 292-301
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  • Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

    Year: 2007
    Journal: Journal of Medical Genetics
    Volume: 44
    Issue: 12
    Page numbers: 791-796
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  • Early seizures: causal events or predisposition to adult epilepsy?
    Year: 2007
    Journal: The Lancet Neurology
    Volume: 6
    Issue: 7
    Page numbers: 643-651
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  • Febrile seizures
    Year: 2007
    Journal: British Medical Journal
    Volume: 334
    Issue: 7588
    Page numbers: 307-311
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  • Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function
    Year: 2007
    Journal: Neuroscience
    Volume: 148
    Issue: 1
    Page numbers: 164-174
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  • Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
    Year: 2007
    Journal: The Lancet Neurology
    Volume: 6
    Issue: 11
    Page numbers: 970-980
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  • SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum
    Year: 2007
    Journal: Epilepsia
    Volume: 48
    Issue: 6
    Page numbers: 1138-1142
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  • Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
    Year: 2007
    Journal: Brain
    Volume: 130
    Issue: 2007
    Page numbers: 100-109
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  • The spectrum of SCN1A-related infantile epileptic encephalopathies

    Year: 2007
    Journal: Brain
    Volume: 130
    Issue: pt 3
    Page numbers: 843-852
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  • Vaccination, seizures and 'vaccine damage'
    Year: 2007
    Journal: Current Opinion in Neurology
    Volume: 20
    Issue: 2
    Page numbers: 181-187
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Publications in 2006

Book Chapters

  • Genetics of Epilepsy: Principles and practice
    Year: 2006
    Book: Pediatric Neurology: Principles & Practice
    Publisher: Mosby International(St Louis)
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Journal Articles

  • SRPX2 mutations in disorders of language cortex and cognition
    Year: 2006
    Journal: Human Molecular Genetics
    Volume: 15
    Issue: 2006
    Page numbers: 1195-1207
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  • A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A
    Year: 2006
    Journal: Neurology
    Volume: 67
    Issue: 2006
    Page numbers: 1094-1095
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  • Analyzing the etiology of Benign rolandic epilepsy: A multicenter twin collaboration
    Year: 2006
    Journal: Epilepsia
    Volume: 47
    Issue: 3
    Page numbers: 550-555
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  • Are epilepsy classifications based on epileptic syndromes and seizure types outdated?
    Year: 2006
    Journal: Epileptic Disorders
    Volume: 8
    Issue: 2006
    Page numbers: 159-160
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  • De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
    Year: 2006
    Journal: The Lancet Neurology
    Volume: 5
    Issue: 2006
    Page numbers: 488-492
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  • Distinguishing Sleep Disorders From Seizures
    Year: 2006
    Journal: Archives of Neurology
    Volume: 63
    Issue: 2006
    Page numbers: 705-709
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  • Electroclinical features of absence seizures in childhood absence epilepsy
    Year: 2006
    Journal: Neurology
    Volume: 67
    Issue: 2006
    Page numbers: 413-418
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  • Epileptiform EEG abnormalities in children with language regression
    Year: 2006
    Journal: Neurology
    Volume: 67
    Issue: 2006
    Page numbers: 1527-1527
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  • Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies
    Year: 2006
    Journal: Epilepsia
    Volume: 47
    Issue: 2006
    Page numbers: 1682-1690
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  • Genetic dissection of the common epilepsies
    Year: 2006
    Journal: Neurology
    Volume: 19
    Issue: 2006
    Page numbers: 157-163
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  • Human epilepsies: interaction of genetic and acquired factors
    Year: 2006
    Journal: Trends in Neurosciences
    Volume: 29
    Issue: 2006
    Page numbers: 391-397
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  • Invited comments on the Shostak and Ottman review. Genetic research on the epilepsies.
    Year: 2006
    Journal: Epilepsia
    Volume: 47
    Issue: 2006
    Page numbers: 1751-1752
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  • Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
    Year: 2006
    Journal: Neurology
    Volume: 67
    Issue: 2006
    Page numbers: 2224-2226
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  • Thalamic Atrophy in Childhood Absence Epilepsy
    Year: 2006
    Journal: Epilepsia
    Volume: 47
    Issue: 2006
    Page numbers: 399-405
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Publications in 2005

Journal Articles

  • Amygdala dysplasia with temporal lobe epilepsy and obsessive-compulsive disorder: An fMRI/EEG study
    Year: 2005
    Journal: Neurology
    Volume: 64
    Page numbers: 1309-1310
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  • Assessment of the role of FDG PET in the diagnosis and management of children with refractory epilepsy
    Year: 2005
    Journal: European Journal of Nuclear Medicine and Molecular Imaging
    Volume: 32
    Page numbers: 1311-1316
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  • Epilepsy syndromes in children
    Year: 2005
    Journal: Australian Family Physician
    Volume: 34
    Page numbers: 1009-1015
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  • Familial clustering of seizure types within the idiopathic generalized epilepsies
    Year: 2005
    Journal: Neurology
    Volume: 65
    Page numbers: 523-528
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  • Febrile seizures
    Year: 2005
    Journal: Australian Family Physician
    Volume: 34
    Issue: 12
    Page numbers: 1021-1025
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  • Is variation in the GABA(B) Receptor 1 Gene Associated with Temporal Lobe Epilepsy?
    Year: 2005
    Journal: Epilepsia
    Volume: 46
    Issue: 5
    Page numbers: 778-780
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  • Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+)
    Year: 2005
    Journal: Epilepsia
    Volume: 46
    Issue: supp 10
    Page numbers: 41-47
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  • Reflex seizures in patients with malformations of cortical development and refractory epilepsy
    Year: 2005
    Journal: Epilepsia
    Volume: 46
    Issue: 8
    Page numbers: 1224-1234
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  • Reply: Genetic influence on rolandic epilepsy
    Year: 2005
    Journal: Annals of Neurology
    Volume: 57
    Issue: 3
    Page numbers: 465-465
    Publisher: Wiley-Liss(New York)
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  • SCN1A Mutations and Epilepsy
    Year: 2005
    Journal: Human Mutation
    Volume: 25
    Page numbers: 535-542
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  • Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion
    Year: 2005
    Journal: American Journal of Medical Genetics
    Volume: 134
    Issue: 1
    Page numbers: 104-109
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  • Susceptibility genes for complex epilepsy
    Year: 2005
    Journal: Human Molecular Genetics
    Volume: 14
    Issue: 2
    Page numbers: R243-R249
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  • The role of genetics and ethnicity in epilepsy management
    Year: 2005
    Journal: Acta Neurologica Scandinavica
    Volume: 112
    Issue: supplement 181
    Page numbers: 47-51
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Publications in 2004

Book Chapters

  • Malformations of crotical develepment as a cause of reflex seizures: neurobiological insights
    Year: 2004
    Book: Reflex epilepsies - Progress in Understanding
    Publisher: John Libbey Eurotext Ltd(Montrouge)
    Authors(s):

Journal Articles

  • Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
    Year: 2004
    Journal: Annals of Neurology
    Volume: 55
    Page numbers: 550-557
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  • Bilateral generalized polymicrogyria (BGP) - A distinct syndrome of cortical malformation
    Year: 2004
    Journal: Neurology
    Volume: 62
    Page numbers: 1722-1728
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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  • Etiological heterogeneity of familial periventicular heterotopia and hydrocephalus
    Year: 2004
    Journal: Brain and Development
    Volume: 26
    Page numbers: 326-334
    Publisher: Elsevier Science(Amsterdam)
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  • Failure to confrim association of a polymorphism in ABCB1 with multidrug-resistant epilepsy
    Year: 2004
    Journal: Neurology
    Volume: 63
    Issue: 6
    Page numbers: 1090-1092
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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  • Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12
    Year: 2004
    Journal: Epilepsia
    Volume: 45
    Issue: 9
    Page numbers: 1054-1060
    Publisher: Blackwell Science(Massachusetts)
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  • Febrile convulsions and genetic susceptibility: role of the neuronal nicotinic acetylcholine receptor α4 subunit
    Year: 2004
    Journal: Epilepsia
    Volume: 45
    Issue: 5
    Page numbers: 561-561
    Publisher: Blackwell Science(Massachusetts)
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  • GABRD encoding a protein for extra- or peri-synaptic GABA (A) receptors is a susceptibility locus for generalized epilepsies
    Year: 2004
    Journal: Human Molecular Genetics
    Volume: 13
    Issue: 13
    Page numbers: 1315-1319
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  • Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families
    Year: 2004
    Journal: Epilepsia
    Volume: 45
    Issue: 5
    Page numbers: 467-478
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  • Genetic variation of CACNA1H in idiopathic generalized epilepsy
    Year: 2004
    Journal: Annals of Neurology
    Volume: 55
    Issue: 4
    Page numbers: 595-596
    Publisher: Wiley-Liss(New York)
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  • Is benign rolandic epilepsy genetically determined?
    Year: 2004
    Journal: Annals of Neurology
    Volume: 56
    Page numbers: 129-132
    Publisher: Wiley-Liss(New York)
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  • Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?
    Year: 2004
    Journal: Brain
    Volume: 127
    Page numbers: 1878-1886
    Publisher: Oxford University Press(Oxford)
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  • LGI1 mutations in temporal lobe epilepsies
    Year: 2004
    Journal: Neurology
    Volume: 62
    Page numbers: 1115-1119
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  • Longitudinal study of MRS metabolites in Rasmussen encephalitis
    Year: 2004
    Journal: Brain
    Volume: 127
    Page numbers: 1302-1312
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  • Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction
    Year: 2004
    Journal: Journal of Medical Genetics
    Volume: 41
    Issue: 3
    Article number: e35
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  • Paroxysmal eyelid movements - a confusing feature of generalized photosensitive epilepsy
    Year: 2004
    Journal: Neurology
    Volume: 63
    Page numbers: 40-42
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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Publications in 2003

Journal Articles

  • A twin study of genetic influences on Epilepsy outcome
    Year: 2003
    Journal: Twin Research
    Volume: 6
    Issue: 2
    Page numbers: 140-146
    Publisher: Australian Academic Press(Bowen Hills)
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  • Channelopathies as a genetic cause of epilepsy
    Year: 2003
    Journal: Current Opinion in Neurology
    Volume: 16
    Issue: 2
    Page numbers: 171-176
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  • Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor

    Year: 2003
    Journal: Brain
    Volume: 126
    Page numbers: 230-240
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  • Genetics of temporal lobe epilepsy
    Year: 2003
    Journal: Journal of Neurology, Neurosurgery and Psychiatry
    Volume: 74
    Page numbers: 1359-1361
    Publisher: BMJ Publishing Group(London)
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  • Occipital epilepsies: identification of specific and newly recognized syndromes
    Year: 2003
    Journal: Brain
    Volume: 126
    Page numbers: 753-769
    Publisher: Oxford University Press(Oxford)
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  • Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy
    Year: 2003
    Journal: Epilepsia
    Volume: 44
    Page numbers: 613-617
    Publisher: Blackwell Science(Massachusetts)
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  • Severe infantile epilepsies: molecular genetics challenge clinical classification
    Year: 2003
    Journal: Brain
    Volume: 126
    Page numbers: 513-514
    Publisher: Oxford University Press(Oxford)
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  • Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
    Year: 2003
    Journal: Neurology
    Volume: 61
    Page numbers: 765-769
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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  • The genetics of human epilepsy
    Year: 2003
    Journal: Trends in Pharmacological Sciences
    Volume: 24
    Page numbers: 428-433
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  • The health-related quality of life of childhood epilepsy syndromes
    Year: 2003
    Journal: Journal of Paediatrics and Child Health
    Volume: 39
    Page numbers: 690-696
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Publications in 2002

Book Chapters

  • Opercular epilepsies with oromotor dysfunction
    Year: 2002
    Book: Epilepsy and Movement Disorders
    Publisher: Cambridge University Press(Cambridge)
    Authors(s):

Journal Articles

  • Chromosomal abnormalities and epilepsy: A review for clinicians and gene hunters
    Year: 2002
    Journal: Epilepsia
    Volume: 43
    Issue: 2
    Page numbers: 127-140
    Publisher: Blackwell Science(Massachusetts)
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  • Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?
    Year: 2002
    Journal: American Journal of Neuroradiology
    Volume: 23
    Page numbers: 1475-1481
    Publisher: American Society of Neuroradiology
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  • Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B
    Year: 2002
    Journal: Neurology
    Volume: 58
    Page numbers: 1426-1429
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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  • Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
    Year: 2002
    Journal: Brain and Development
    Volume: 24
    Page numbers: 166-268
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  • Mutations in the human ortholog of Arstaless cause X-linked mental retardation and epilepsy
    Year: 2002
    Journal: Nature Genetics
    Volume: 30
    Issue: 4
    Page numbers: 441-445
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  • Sodium-channel defects in benign familial neonatal-infantile seizures
    Year: 2002
    Journal: The Lancet
    Volume: 360
    Page numbers: 851-852
    Publisher: Lancet(London)
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  • Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females
    Year: 2002
    Journal: Brain
    Volume: 125
    Page numbers: 2507-2522
    Publisher: Oxford University Press(Oxford)
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  • Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus
    Year: 2002
    Journal: American Journal of Human Genetics
    Volume: 70
    Page numbers: 530-536
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  • X-linked myoclonic epilepsy with spasticity and intellectual disability
    Year: 2002
    Journal: Neurology
    Volume: 59
    Page numbers: 348-356
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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Publications in 2001

Journal Articles

  • CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
    Year: 2001
    Journal: American Journal of Human Genetics
    Volume: 68
    Page numbers: 225-231
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  • Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)
    Year: 2001
    Journal: Brain and Development
    Publisher: Elsevier Science(Amsterdam)
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  • Genetics of the epilepsies
    Year: 2001
    Journal: Epilepsia
    Volume: 42
    Issue: Suppl 5
    Page numbers: 16-23
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  • Mutant GABAA receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
    Year: 2001
    Journal: Nature Genetics
    Volume: 28
    Issue: May
    Page numbers: 49-52
    Publisher: Nature America(New York)
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  • Mutations of the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as females
    Year: 2001
    Journal: Human Molecular Genetics
    Volume: 10
    Issue: 17
    Page numbers: 1775-1783
    Publisher: Oxford University Press(Oxford)
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  • Near-total Absence of the Cerebellum
    Year: 2001
    Journal: Neuropediatrics
    Volume: 32
    Page numbers: 62-68
    Publisher: Georg Thieme Verlag(Stuttgart)
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  • Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus
    Year: 2001
    Journal: American Journal of Human Genetics
    Volume: 68
    Page numbers: 859-865
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  • Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?
    Year: 2001
    Journal: Epilepsia
    Volume: 42
    Issue: 7
    Page numbers: 837-844
    Publisher: Blackwell Science(Massachusetts)
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