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PROF INGRID SCHEFFER



Contact Details

Organization: Medicine - Austin Health and Northern Health
Position: PROFESSOR OF PAEDIATRIC NEUROLOGY RESEARCH
Email:
Work: 9496 2737
Fax: 9496 2291
Building: No Building
Campus: Repatriation Hospital

Qualifications, Honours, Fellowships and Other Awards

Qualifications

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

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

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

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 2009

Journal Articles

  • 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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  • 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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  • 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.
    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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  • Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS
    Year: 2009
    Journal: Epilepsia
    Volume: 50
    Issue: 10
    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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  • 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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Publications in 2008

Journal Articles

  • Classification and clinical features of absence epilepsies: how evidence leads to changing concepts


    Year: 2008
    Journal: Epilepsia
    Volume: 49
    Issue: 12
    Page numbers: 2131-2147
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  • Generalized epilepsy with febrile seizures plus A genetic disorder with heterogeneous clinical phenotypes


    Year: 2008
    Journal: Brain
    Volume: 120
    Page numbers: 479-490
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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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  • 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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  • 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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  • Translational research in epilepsy genetics
    Year: 2008
    Journal: Archives of Neurology
    Volume: 66
    Issue: 1
    Page numbers: 21-86
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Publications in 2007

Journal Articles

  • 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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  • 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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  • 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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  • 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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  • 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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  • 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: 2007
    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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  • 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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  • 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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  • 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)
    Authors(s):
    Editors(s):

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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  • A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A
    Year: 2006
    Journal: Neurology
    Volume: 67
    Issue: 2006
    Page numbers: 2224-2226
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  • Analyzing the etiology of benign rolandic epilepsy: a multicentre 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
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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
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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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
    Publisher: Springer Verlag
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  • Epilepsy syndromes in children
    Year: 2005
    Journal: Australian Family Physician
    Volume: 34
    Page numbers: 1009-1015
    Publisher: Royal Australian College of General Practitioners
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  • Familial clustering of seizure types within the idiopathic generalized epilepsies
    Year: 2005
    Journal: Neurology
    Volume: 65
    Page numbers: 523-528
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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  • Febrile seizures
    Year: 2005
    Journal: Australian Family Physician
    Volume: 34
    Issue: 12
    Page numbers: 1021-1025
    Publisher: Royal Australian College of General Practitioners
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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
    Publisher: Blackwell Science(Massachusetts)
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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
    Publisher: Blackwell Science(Massachusetts)
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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
    Publisher: Blackwell Science(Massachusetts)
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  • Reply: Genetic influence on rolandic epilepsy
    Year: 2005
    Journal: Annals of Neurology
    Volume: 57
    Issue: 3
    Page numbers: 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
    Publisher: Wiley-Liss(New York)
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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
    Publisher: Wiley-Liss(New York)
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  • Susceptibility genes for complex epilepsy
    Year: 2005
    Journal: Human Molecular Genetics
    Volume: 14
    Issue: 2
    Page numbers: R243-R249
    Publisher: Oxford University Press(Oxford)
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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
    Publisher: Wiley-Liss(New York)
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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
    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
    Publisher: Oxford University Press(Oxford)
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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
    Publisher: Blackwell Science(Massachusetts)
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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
    Publisher: Oxford University Press(Oxford)
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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
    Page numbers: e35
    Publisher: BMJ Publishing Group(London)
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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

  • 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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  • 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
    Publisher: Lippincott Williams & Wilkins(Philadelphia)
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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
    Publisher: Elsevier Science(Amsterdam)
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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
    Publisher: Nature America(New York)
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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
    Publisher: University of Chicago Press(Illinois)
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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
    Publisher: University of Chicago Press(Illinois)
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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
    Publisher: University of Chicago Press(Illinois)
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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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