I E Scheffer

Summary

Affiliation: University of Melbourne
Country: Australia

Publications

  1. ncbi request reprint Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
    Ingrid E Scheffer
    Department of Medicine Neurology, University of Melbourne, Melbourne, Victoria, Australia
    Brain 130:100-9. 2007
  2. doi request reprint Epilepsy in 2012: Advances in epilepsy shed light on key questions
    Ingrid E Scheffer
    Florey Institute of Neuroscience and Mental Health and Department of Medicine, University of Melbourne, Austin Health, Burgundy Street, Victoria 3084, Melbourne, Australia
    Nat Rev Neurol 9:66-8. 2013
  3. doi request reprint Diagnosis and long-term course of Dravet syndrome
    Ingrid E Scheffer
    Department of Medicine and Paediatrics, Florey Neuroscience Institutes, University of Melbourne, Austin Health and Royal Children s Hospital, Melbourne, Australia
    Eur J Paediatr Neurol 16:S5-8. 2012
  4. doi request reprint Epilepsy: a classification for all seasons?
    Ingrid E Scheffer
    Epilepsy Research Centre and Department of Medicine, The University of Melbourne, Austin Health, Florey Neuroscience Institutes, Heidelberg, Victoria, Australia
    Epilepsia 53:6-9. 2012
  5. doi request reprint Epilepsy and mental retardation limited to females: an under-recognized disorder
    Ingrid E Scheffer
    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Heidelberg Repatriation Hospital, Banksia Street, Heidelberg VIC 3081, Australia
    Brain 131:918-27. 2008
  6. ncbi request reprint X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX
    Ingrid E Scheffer
    Department of Medicine Neurology, Epilepsy Research Institute, Austin and Repatriation Medical Centre, University of Melbourne, Neurosciences Building Level 1, Banksia Street, West Heidelberg, Victoria 3081, Australia
    Neurology 59:348-56. 2002
  7. doi request reprint Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    Ingrid E Scheffer
    Department of Medicine, The University of Melbourne, Austin Health, Victoria, Australia
    Brain Dev 31:394-400. 2009
  8. ncbi request reprint Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)
    I E Scheffer
    Epilepsy Research Institute, University of Melbourne, Austin and Repatriation Medical Centre and Royal Children s Hospital, Melbourne, Victoria, Australia
    Brain Dev 23:732-5. 2001
  9. ncbi request reprint Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+)
    Ingrid E Scheffer
    Department of Medicine Neurology, The University of Melbourne, Austin Health, Melbourne, Victoria
    Epilepsia 46:41-7. 2005
  10. ncbi request reprint The role of genetics and ethnicity in epilepsy management
    I E Scheffer
    Department of Medicine and Paediatrics, The University of Melbourne, Epilepsy Research Centre, Melbourne, Vic, Australia
    Acta Neurol Scand Suppl 181:47-51. 2005

Detail Information

Publications99

  1. ncbi request reprint Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
    Ingrid E Scheffer
    Department of Medicine Neurology, University of Melbourne, Melbourne, Victoria, Australia
    Brain 130:100-9. 2007
    ..We confirm the role of SCN1B in GEFS+ and show that the GEFS+ spectrum may include TLE alone. TLE with an SCN1B mutation is not a contraindication to epilepsy surgery...
  2. doi request reprint Epilepsy in 2012: Advances in epilepsy shed light on key questions
    Ingrid E Scheffer
    Florey Institute of Neuroscience and Mental Health and Department of Medicine, University of Melbourne, Austin Health, Burgundy Street, Victoria 3084, Melbourne, Australia
    Nat Rev Neurol 9:66-8. 2013
    ..From important discoveries that revealed causative factors and the molecular basis of disease, to major implications for surgical decision-making, these studies set the scene for future advances in the field...
  3. doi request reprint Diagnosis and long-term course of Dravet syndrome
    Ingrid E Scheffer
    Department of Medicine and Paediatrics, Florey Neuroscience Institutes, University of Melbourne, Austin Health and Royal Children s Hospital, Melbourne, Australia
    Eur J Paediatr Neurol 16:S5-8. 2012
    ..Rare patients have normal intellect. The long-term course involves ongoing, brief nocturnal convulsions and a characteristic deterioration in gait...
  4. doi request reprint Epilepsy: a classification for all seasons?
    Ingrid E Scheffer
    Epilepsy Research Centre and Department of Medicine, The University of Melbourne, Austin Health, Florey Neuroscience Institutes, Heidelberg, Victoria, Australia
    Epilepsia 53:6-9. 2012
    ..Ongoing discussion will help to further mature the new organization...
  5. doi request reprint Epilepsy and mental retardation limited to females: an under-recognized disorder
    Ingrid E Scheffer
    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Heidelberg Repatriation Hospital, Banksia Street, Heidelberg VIC 3081, Australia
    Brain 131:918-27. 2008
    ..In single cases, diagnosis will depend on identification of the molecular basis...
  6. ncbi request reprint X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX
    Ingrid E Scheffer
    Department of Medicine Neurology, Epilepsy Research Institute, Austin and Repatriation Medical Centre, University of Melbourne, Neurosciences Building Level 1, Banksia Street, West Heidelberg, Victoria 3081, Australia
    Neurology 59:348-56. 2002
    ..To describe a new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability (XMESID) and identify the gene defect underlying this disorder...
  7. doi request reprint Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    Ingrid E Scheffer
    Department of Medicine, The University of Melbourne, Austin Health, Victoria, Australia
    Brain Dev 31:394-400. 2009
    ..Early recognition of Dravet syndrome is important as aggressive control of seizures may improve developmental outcome...
  8. ncbi request reprint Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)
    I E Scheffer
    Epilepsy Research Institute, University of Melbourne, Austin and Repatriation Medical Centre and Royal Children s Hospital, Melbourne, Victoria, Australia
    Brain Dev 23:732-5. 2001
    ..It is likely that future molecular studies will shed light on the interaction of a number of genes, possibly related to the same or different ion channels, which result in a severe phenotype such as MAE and SMEI...
  9. ncbi request reprint Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+)
    Ingrid E Scheffer
    Department of Medicine Neurology, The University of Melbourne, Austin Health, Melbourne, Victoria
    Epilepsia 46:41-7. 2005
  10. ncbi request reprint The role of genetics and ethnicity in epilepsy management
    I E Scheffer
    Department of Medicine and Paediatrics, The University of Melbourne, Epilepsy Research Centre, Melbourne, Vic, Australia
    Acta Neurol Scand Suppl 181:47-51. 2005
    ..With further understanding of the impact of these differences, pharmacogenetic screening is likely to guide the management of epilepsy in the future...
  11. ncbi request reprint Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults
    F E Jansen
    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Australia
    Neurology 67:2224-6. 2006
    ..The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2...
  12. ncbi request reprint Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function
    R Xu
    Howard Florey Institute, The University of Melbourne, Parkville, Melbourne, Victoria 3010, Australia
    Neuroscience 148:164-74. 2007
    ..In summary, the mutant beta1 subunits essentially fail to modulate alpha subunits which could increase neuronal excitability and underlie GEFS+ pathogenesis...
  13. ncbi request reprint Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?
    R Singh
    Department of Medicine Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Melbourne, Australia
    Epilepsia 42:837-44. 2001
    ..It is often associated with a family history of seizure disorders, but epilepsy phenotypes have not been well described. We sought to characterize the seizure phenotypes of relatives to better understand to the genetic basis of SMEI...
  14. doi request reprint Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
    Angelique E J Sijben
    Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Australia
    Epilepsia 50:953-6. 2009
    ..This study is the first to demonstrate that a specific genetic abnormality directly influences the FS and FS+ phenotype in terms of age of onset...
  15. ncbi request reprint Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families
    Carla Marini
    Epilepsy Research Institute, Department of Medicine Neurology The University of Melbourne, Austin Health, Victoria, Australia
    Epilepsia 45:467-78. 2004
    ..We performed a genetic study of IGE families to clarify the genetic relation of the IGE subsyndromes and to improve understanding of the mode(s) of inheritance...
  16. doi request reprint Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
    S A Mullen
    Epilepsy Research Centre, Neuroscience Building, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia
    Neurology 75:432-40. 2010
    ..We recently demonstrated that GLUT1 deficiency occurs in over 10% of patients with early-onset absence epilepsy...
  17. ncbi request reprint LGI1 mutations in temporal lobe epilepsies
    S F Berkovic
    Epilepsy Research Institute and Department of Medicine, University of Melbourne, Victoria, Australia
    Neurology 62:1115-9. 2004
    ..The authors aimed to determine the spectrum of TLE phenotypes with LGI1 mutations, to study the frequency of mutations in ADPEAF, and to examine the role of LGI1 paralogs in ADPEAF without LGI1 mutations...
  18. doi request reprint Benign occipital epilepsies of childhood: clinical features and genetics
    Isabella Taylor
    Department of Medicine, Epilepsy Research CentreThe University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
    Brain 131:2287-94. 2008
    ..Family studies show both focal and generalized epilepsies reinforcing that these are not discrete categories of idiopathic epilepsies and are likely to share genetic determinants...
  19. doi request reprint Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability
    Christopher P Derry
    Department of Medicine Neurology, Epilepsy Research Centre, University of Melbourne, Victoria, Australia
    Epilepsia 49:2125-9. 2008
    ..In conclusion, severe ADNFLE has significant medical, psychiatric, and intellectual morbidity. The molecular basis of severe ADNFLE is unknown but may involve non-nAChR-related mechanisms...
  20. doi request reprint Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study
    Anne M McIntosh
    Epilepsy Research Centre and Department of Medicine Neurology, University of Melbourne, Victoria, Australia
    Lancet Neurol 9:592-8. 2010
    ..In this study, we aimed to establish whether the apparent association of Dravet syndrome with vaccination was caused by recall bias and, if not, whether vaccination affected the onset or outcome of the disorder...
  21. ncbi request reprint Genetics of the epilepsies
    S F Berkovic
    Epilepsy Research Institute, The University of Melbourne, Austin and Repatriation Medical Centre, West Heidelberg, Victoria, Australia
    Epilepsia 42:16-23. 2001
    ..Once such genes are discovered, the gene-gene-environmental interactions producing specific epilepsy syndromes can be explored...
  22. ncbi request reprint Febrile seizures: genetics and relationship to other epilepsy syndromes
    S F Berkovic
    Department of Medicine Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Heidelberg, Australia
    Curr Opin Neurol 11:129-34. 1998
    ..The relationship between febrile seizures and later epilepsy is frequently genetic. Recent clinical and molecular genetic studies suggest that there are a number of syndrome-specific genes for febrile seizures...
  23. ncbi request reprint Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?
    Nigel C K Tan
    Epilepsy Research Centre and Department of Medicine Neurology, University of Melbourne, Australia
    Epilepsia 46:778-80. 2005
    ..1465G-->A variant in the GABA(B) receptor 1 gene (GABBR1) and susceptibility to temporal lobe epilepsy (TLE) has been reported in an Italian cohort. We sought to replicate this association in an independent Australian cohort...
  24. ncbi request reprint Amygdala dysplasia with temporal lobe epilepsy and obsessive-compulsive disorder: an fMRI/EEG study
    A Labate
    Brain Research Institute, Austin Health, Heidelberg West, Victoria 3081, Australia
    Neurology 64:1309-10. 2005
  25. ncbi request reprint Autosomal dominant rolandic epilepsy with speech dyspraxia
    I E Scheffer
    Departments of Neurology, Austin and Repatriation Medical Centre, Royal Children s Hospital, Monash Medical Centre, and University of Melbourne, Australia
    Epileptic Disord 2:S19-22. 2000
    ..BRE follows complex inheritance but it is possible that ADRESD may hold some valuable clues to the pathogenesis of BRE...
  26. doi request reprint The core network in absence epilepsy. Differences in cortical and thalamic BOLD response
    P W Carney
    Brain Research Institute, Florey Neurosciences Institutes, Neurosciences Building, Heidelberg Repatriation Hospital, Austin Health, West Heidelberg, Victoria 3081, Australia
    Neurology 75:904-11. 2010
    ..Our aim was to identify cortical and subcortical regions involved in spike and wave events and to explore the timing of activity in these regions...
  27. pmc De novo SCN1A mutations in migrating partial seizures of infancy
    D Carranza Rojo
    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia
    Neurology 77:380-3. 2011
    ..To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures of infancy (MPSI)...
  28. ncbi request reprint Genetics of the epilepsies
    S F Berkovic
    Epilepsy Research Institute, University of Melbourne, Austin and Repatriation Medical Centre, Australia
    Curr Opin Neurol 12:177-82. 1999
    ..All four genes discovered to date for idiopathic epilepsies code for ion channel subunits, either ligand-gated or voltage-gated. The idiopathic epilepsies thus appear, at least in part, to be a family of channelopathies...
  29. ncbi request reprint De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
    Samuel F Berkovic
    Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
    Lancet Neurol 5:488-92. 2006
    ....
  30. ncbi request reprint Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12
    Samuel F Berkovic
    Epilepsy Research Centre, University of Melbourne, Austin and Repatriation Medical Centre, Victoria, Australia
    Epilepsia 45:1054-60. 2004
    ..A gene for FPEVF was mapped to chromosome 22q12 in two distantly related French-Canadian families...
  31. doi request reprint Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse
    Saul A Mullen
    Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3081, Australia
    Arch Neurol 66:21-6. 2009
    ..This illustrates the key role that basic science plays in the development of targeted novel therapies and, ultimately, in the prevention of devastating genetic disorders...
  32. ncbi request reprint A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel
    Ruwei Xu
    Howard Florey Institute, The University of Melbourne, Parkville, Victoria, 3010, Melbourne, Australia
    Mol Cell Neurosci 35:292-301. 2007
    ..More generally, developmentally regulated NaV1.2 splicing may be one mechanism that counters the normally high excitability of neonatal neurons and helps to reduce seizure susceptibility in normal human infants...
  33. ncbi request reprint Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration
    Lata Vadlamudi
    Epilepsy Research Centre, Department of Medicine Neurology, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
    Epilepsia 47:550-5. 2006
    ..We analyzed a large sample of twins from four international twin registers to probe the genetics of BRE. We also aim to synthesize the apparently conflicting family and twin data into a model of BRE etiology...
  34. ncbi request reprint Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation
    Carla Marini
    Epilepsy Research Institute, The University of Melbourne, Austin and Repatriation Medical Centre, West Heidelberg, Victoria, Australia
    Brain 126:230-40. 2003
    ..Linkage analysis for a putative second gene contributing to the CAE phenotype suggested possible loci on chromosomes 10, 13, 14 and 15. Examination of these loci in other absence pedigrees is warranted...
  35. ncbi request reprint Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy
    Samuel F Berkovic
    Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Victoria, Australia
    Ann Neurol 55:550-7. 2004
    ..Ictal recordings in four subjects showed onset in the posterior quadrants. SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis...
  36. ncbi request reprint Human epilepsies: interaction of genetic and acquired factors
    Samuel F Berkovic
    Department of Medicine and Epilepsy Research, University of Melbourne, Austin Health, Heidelberg West, Victoria 3081, Australia
    Trends Neurosci 29:391-7. 2006
    ..This review is part of the INMED/TINS special issue "Nature and nurture in brain development and neurological disorders", based on presentations at the annual INMED/TINS symposium (http://inmednet.com/)...
  37. doi request reprint Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities
    S A Mandelstam
    Florey Neurosciences Institute, Melbourne, Australia
    AJNR Am J Neuroradiol 34:432-8. 2013
    ..The purpose of this study was to define the imaging features of posterior bilateral periventricular nodular heterotopia and to determine whether associated brain malformations suggest specific subcategories...
  38. doi request reprint Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy
    M Fedi
    Department of Medicine, The University of Melbourne, Victoria, Australia
    Neurology 71:795-8. 2008
    ..As activation of presynaptic nicotinic receptors augments the release of dopamine in the striatum and the prefrontal regions, we tested the hypothesis that that the alpha4-Ser248Phe mutation affects dopaminergic transmission...
  39. ncbi request reprint Epilepsies with single gene inheritance
    S F Berkovic
    Department of Medicine Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Victoria, Australia
    Brain Dev 19:13-8. 1997
    ..This will lead to an improved understanding of human epileptogenesis with implications for clinical diagnosis, genetic counselling, pharmacological therapy and possibly prevention of epilepsy...
  40. ncbi request reprint Near-total absence of the cerebellum
    R J Gardner
    Victorian Clinical Genetics Services, Royal Children s Hospital, Melbourne, Australia
    Neuropediatrics 32:62-8. 2001
    ..Quite different clinical pictures, of considerably greater severity, are demonstrated in the remaining two cases. One had pontocerebellar hypoplasia type 2, while the other had a complex cerebellar and cerebral malformation...
  41. doi request reprint Timing of de novo mutagenesis--a twin study of sodium-channel mutations
    Lata Vadlamudi
    Epilepsy Research Center, Austin Health, University of Melbourne, Melbourne, Vic, Australia
    N Engl J Med 363:1335-40. 2010
    ....
  42. ncbi request reprint Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?
    Isabella Taylor
    Epilepsy Research Centre, Level 1, Neurosciences Building, Austin Health, The University of Melbourne, Banksia Street, West Heidelberg, Victoria, 3081 Australia
    Brain 127:1878-86. 2004
    ....
  43. doi request reprint Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy
    Amanda G Wood
    Department of Medicine, Southern Clinical School, Monash University, Melbourne, Australia
    Epilepsy Behav 17:531-5. 2010
    ..In our study of ADNFLE associated with one mutation, cognitive flexibility appears to be the core cognitive deficit...
  44. ncbi request reprint Occipital epilepsies: identification of specific and newly recognized syndromes
    Isabella Taylor
    Epilepsy Research Institute, University of Melbourne, Austin and Repatriation Medical Centre, Heidelberg West, Victoria, Australia
    Brain 126:753-69. 2003
    ..Where medical therapy is ineffective, occipital corticectomy should be considered. Emerging evidence suggests that some syndromes have a good surgical outcome, and the consequences to visual function may be less severe than anticipated...
  45. ncbi request reprint Genetics of the epilepsies
    I E Scheffer
    Department of Medicine Neurology, The University of Melbourne, Epilepsy Research Institute, Austin and Repatriation Medical Centre, Australia
    Curr Opin Pediatr 12:536-42. 2000
    ..Once such genes are discovered, the gene-gene-environmental interactions producing specific epilepsy syndromes can be explored...
  46. ncbi request reprint Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?
    Isabella Taylor
    Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg Victoria, Australia
    Epilepsia 48:1807-9. 2007
    ..Allele frequencies did not differ between these groups. The hypothesis was not supported, so alternate reasons for the sex bias in photosensitive epilepsy must be sought...
  47. doi request reprint Navigating the channels and beyond: unravelling the genetics of the epilepsies
    Ingo Helbig
    Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Australia
    Lancet Neurol 7:231-45. 2008
    ..This knowledge not only informs clinicians about the biology of the epilepsies but also has important consequences for clinical practice and genetic counselling...
  48. ncbi request reprint Distinguishing sleep disorders from seizures: diagnosing bumps in the night
    Christopher Paul Derry
    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia
    Arch Neurol 63:705-9. 2006
    ..In nocturnal frontal lobe epilepsy (NFLE), the unusual seizure features often lead to diagnostic confusion with nonepileptic parasomnias; video-electroencephalography monitoring is usually required to make the diagnosis...
  49. doi request reprint Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance
    Douglas E Crompton
    Department of Medicine and Epilepsy Research Centre, University of Melbourne, Austin Health, West Heidelberg, Victoria, Australia
    Brain 133:3221-31. 2010
    ....
  50. doi request reprint 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment
    Alison Yeung
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    Eur J Med Genet 52:440-2. 2009
    ..The 14q12 microduplication comprised 4.45 Mb of DNA and included FOXG1. This is the first report of duplication involving FOXG1 and suggests a dosage sensitive role for FOXG1 in brain development...
  51. ncbi request reprint Epilepsy syndromes in children
    Patrick Carney
    Austin Health, Melbourne, Victoria
    Aust Fam Physician 34:1009-15. 2005
    ..Understanding the common childhood epilepsy syndromes is valuable when approaching the diagnosis and management of a child presenting with seizures...
  52. ncbi request reprint Phenotypic characterization of an alpha 4 neuronal nicotinic acetylcholine receptor subunit knock-out mouse
    S A Ross
    Neurosciences Group, Monash University Department of Medicine and Institute of Reproduction and Development, Monash Medical Centre, Clayton, Victoria, 3168, Australia
    J Neurosci 20:6431-41. 2000
    ..Furthermore, the response of Mt to nicotine administration suggests that persistent nicotine binding sites in the habenulo-interpeduncular system are sufficient to modulate motor activity in actively exploring mice...
  53. ncbi request reprint Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion
    D L Steele
    Department of Psychology, Monash University, Melbourne, Australia
    Am J Med Genet B Neuropsychiatr Genet 134:104-9. 2005
    ..The particular neuropsychological profile that we describe may assist diagnosis of this chromosomal deletion...
  54. doi request reprint Electroencephalographic abnormalities during sleep in children with developmental speech-language disorders: a case-control study
    Bronwyn Parry-Fielder
    Royal Children s Hospital, Melbourne, Australia
    Dev Med Child Neurol 51:228-34. 2009
    ..04). This study draws into question previously reported associations between epileptiform activity and DSLD probably because it examined a purer cohort of children with more severe language difficulties who did not have seizures...
  55. ncbi request reprint Vaccination, seizures and 'vaccine damage'
    Natasha J Brown
    Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
    Curr Opin Neurol 20:181-7. 2007
    ..This review focuses on the risk of seizures following vaccination and the alleged associations of vaccination with vaccine encephalopathy and also with autism spectrum disorders...
  56. ncbi request reprint A twin study of genetic influences on epilepsy outcome
    Michael R Johnson
    Epilepsy Research Institute and Department of Medicine Neurology, University of Melbourne, Austin and Repatriation Medical Centre, West Heidelberg, Australia
    Twin Res 6:140-6. 2003
    ..The observed high correlations for outcome suggest that, for epilepsy, susceptibility genes also have a major influence on outcome...
  57. ncbi request reprint The genetics of human epilepsy
    Ingrid E Scheffer
    Department of Medicine Neurology, The University of Melbourne, Epilepsy Research Institute, Austin and Repatriation Medical Centre, Australia
    Trends Pharmacol Sci 24:428-33. 2003
    ..The heterogeneity of mutations described to date has precluded the development of simple diagnostic tests, but advances in the next few years are likely to have an impact on both the clinical diagnosis and the treatment of epilepsies...
  58. ncbi request reprint Febrile seizures
    Jayasri Srinivasan
    Austin Health and Royal Children s Hospital, Melbourne, Victoria
    Aust Fam Physician 34:1021-5. 2005
    ..Febrile convulsions, or febrile seizures, are frequently encountered in paediatrics, and despite often being self limiting, these seizures strike fear in the hearts of patients' carers...
  59. ncbi request reprint Is benign rolandic epilepsy genetically determined?
    Lata Vadlamudi
    Epilepsy Research Centre, Department of Medicine Neurology, University of Melbourne, Austin Health, Australia
    Ann Neurol 56:129-32. 2004
    ..4) for BRE compared with 0.7 (95% CI, 0.5-0.9) for 26 IGE MZ pairs. Our data suggest that conventional genetic influences in BRE are considerably less than for IGE, and other mechanisms need to be explored...
  60. ncbi request reprint Association of a nicotinic receptor mutation with reduced height and blunted physostigmine-stimulated growth hormone release
    Marco Fedi
    Department of Medicine, Austin Hospital, The University of Melbourne, Heidelberg, Victoria 3084 Australia
    J Clin Endocrinol Metab 93:634-7. 2008
    ..Activation of neuronal nicotinic acetylcholine (nACh) receptors promotes GH release, but the role of these receptors in growth regulation is unknown...
  61. doi request reprint Gene expression analysis in absence epilepsy using a monozygotic twin design
    Ingo Helbig
    Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Australia
    Epilepsia 49:1546-54. 2008
    ..To identify genes involved in idiopathic absence epilepsies by analyzing gene expression using a monozygotic (MZ) twin design...
  62. ncbi request reprint Thalamic atrophy in childhood absence epilepsy
    Chow Huat Patrick Chan
    Brain Research Institute, Neurosciences Building, Austin Health, Heidelberg West, Victoria 3081, Australia
    Epilepsia 47:399-405. 2006
    ..We assessed whether structural grey and white matter volume changes of these areas occurred in patients with absence seizures by using optimized voxel-based morphometry (VBM)...
  63. ncbi request reprint Assessment of the role of FDG PET in the diagnosis and management of children with refractory epilepsy
    Glenn P Ollenberger
    Department of Nuclear Medicine and Centre for PET, University of Melbourne, Melbourne, Australia
    Eur J Nucl Med Mol Imaging 32:1311-6. 2005
    ..We performed a retrospective analysis of the results of FDG PET scans in children with refractory epilepsy referred to our centre over an 8-year period, with a view to ascertaining the impact of FDG PET on subsequent patient management...
  64. doi request reprint Focal epileptiform spikes do not show a canonical BOLD response in patients with benign rolandic epilepsy (BECTS)
    Richard A J Masterton
    Brain Research Institute, Florey Neuroscience Institutes, Austin, Melbourne, Australia
    Neuroimage 51:252-60. 2010
    ..In studies of homogeneous patient groups, therefore, localisation results may be improved by using a group-specific BOLD response...
  65. ncbi request reprint Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters
    Rita Singh
    Department of Medicine Neurology, The University of Melbourne, Austin and Repatriation Medical Centre, Australia
    Epilepsia 43:127-40. 2002
    ..The expectation was that these regions could then be offered as targets in the search for epilepsy genes...
  66. doi request reprint Detection of microchromosomal aberrations in refractory epilepsy: a pilot study
    Jacinta M McMahon
    Department of Medicine, University of Melbourne, Australia
    Epileptic Disord 12:192-8. 2010
    ..2 also present in the unaffected mother. We conclude that gene content of microchromosomal aberrations is not a major cause of refractory seizures, but that microchromosomal anomalies are found in an appreciable fraction of such cases...
  67. ncbi request reprint Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?
    L Anne Mitchell
    Department of Radiology, Royal Children s Hospital, Melbourne, Australia
    AJNR Am J Neuroradiol 23:1475-81. 2002
    ....
  68. ncbi request reprint Channelopathies as a genetic cause of epilepsy
    John C Mulley
    Centre for Medical Genetics, Department of Laboratory Genetics, Women s and Children s Hospital, 72 King William Road, North Adelaide 5006, South Australia
    Curr Opin Neurol 16:171-6. 2003
    ....
  69. ncbi request reprint Reflex seizures in patients with malformations of cortical development and refractory epilepsy
    Andre Palmini
    Porto Alegre Epilepsy Surgery Program, Hospital Sao Lucas, Pontificia Universidade Catolica do Rio Grande do Sul PUCRS, Porto Alegre, Brazil
    Epilepsia 46:1224-34. 2005
    ..We sought to characterize reflex seizures in patients with MCDs and refractory epilepsy...
  70. pmc Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
    Louise A Harkin
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, South Australia, Australia
    Am J Hum Genet 70:530-6. 2002
    ..This finding reinforces the involvement of GABA(A) receptors in epilepsy...
  71. ncbi request reprint Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
    Petter Strømme
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Nat Genet 30:441-5. 2002
    ..In addition, we have identified a missense mutation within the ARX homeodomain and a truncation mutation. Thus, it would seem that mutation of ARX is a major contributor to X-linked mental retardation and epilepsy...
  72. ncbi request reprint Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
    Petter Strømme
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Brain Dev 24:266-8. 2002
    ..These data suggest that mutations in the ARX gene are important causes of MR, often associated with diverse neurological manifestations...
  73. ncbi request reprint Sodium-channel defects in benign familial neonatal-infantile seizures
    Sarah E Heron
    Department of Laboratory Genetics, Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Lancet 360:851-2. 2002
    ..This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disorders frequently have a sombre prognosis...
  74. ncbi request reprint Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus
    Volney L Sheen
    Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, HIM 816, 4 Blackfan Circle, Boston, MA 02115, USA
    Brain Dev 26:326-34. 2004
    ..Affected individuals have severe developmental delay and may have radiographic findings of hydrocephalus...
  75. ncbi request reprint GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies
    Leanne M Dibbens
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia
    Hum Mol Genet 13:1315-9. 2004
    ....
  76. ncbi request reprint SCN1A mutations and epilepsy
    John C Mulley
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Hum Mutat 25:535-42. 2005
    ..Of all the known epilepsy genes SCN1A is currently the most clinically relevant, with the largest number of epilepsy related mutations so far characterized...
  77. ncbi request reprint Severe infantile epilepsies: molecular genetics challenge clinical classification
    Ingrid E Scheffer
    Brain 126:513-4. 2003
  78. ncbi request reprint Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy
    Ailsa McLellan
    Ninewells Hospital and Medical School, Dundee, Scotland
    Epilepsia 44:613-7. 2003
    ..Here we examined the phenotypes in two families, from the same ethnic and geographic backgrounds, with ADNFLE as a result of mutations in these two different subunits of CHRN...
  79. ncbi request reprint Susceptibility genes for complex epilepsy
    John C Mulley
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Hum Mol Genet 14:R243-9. 2005
    ..The susceptibility genes so far detected are not commonly involved in complex epilepsy suggesting the likelihood of considerable underlying polygenic heterogeneity...
  80. pmc X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
    Leanne M Dibbens
    Department of Genetic Medicine, Level 9 Rieger Building, Women s and Children s Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia
    Nat Genet 40:776-81. 2008
    ..PCDH19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation...
  81. ncbi request reprint The spectrum of SCN1A-related infantile epileptic encephalopathies
    Louise A Harkin
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia
    Brain 130:843-52. 2007
    ..Knowledge of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders...
  82. ncbi request reprint Exploration of the genetic architecture of idiopathic generalized epilepsies
    Anne Hempelmann
    Gene Mapping Center, Max Delbruck Center, Berlin, Germany
    Epilepsia 47:1682-90. 2006
    ..The objective of the present study was to explore the genetic architecture of common IGE syndromes and to dissect out susceptibility loci predisposing to absence or myoclonic seizures...
  83. ncbi request reprint Channelopathies in idiopathic epilepsy
    Sarah E Heron
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia 5006
    Neurotherapeutics 4:295-304. 2007
    ....
  84. ncbi request reprint Association studies and functional validation or functional validation alone?
    Sarah E Heron
    Department of Genetic Medicine, Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
    Epilepsy Res 74:237-8. 2007
  85. ncbi request reprint A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy
    Gianpiero L Cavalleri
    The Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland
    Epilepsia 48:706-12. 2007
    ..Here we examine the association between the candidate causal SNP (the promoter variant rs3918149) and JME in five independent cohorts comprising in total 531 JME cases and 1,390 healthy controls...
  86. ncbi request reprint Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy
    Elodie Chabrol
    INSERM U679, Neurology and Experimental Therapeutics, Hopital de la Pitie Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    Epilepsy Res 76:41-8. 2007
    ..Although, we identified several synonymous and non-synonymous polymorphisms, we failed to identify disease-causing mutations, indicating that ADAM22 gene is probably not a major gene for this epilepsy syndrome...
  87. ncbi request reprint SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum
    Eric Herlenius
    Department of Woman and Child Health, Astrid Lindgren s Children s Hospital, Karolinska Institutet, Stockholm, Sweden
    Epilepsia 48:1138-42. 2007
    ..This study extends the age range of presentation of BFNIS, confirms that neonatal and early infantile onsets are characteristic, and emphasizes the role of molecular diagnosis to confirm the etiology...
  88. doi request reprint Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore
    Jean Charles Hoda
    Department of Neuroscience, University of Geneva, CMU, 1, rue M Servet, CH 1211 Geneva 4, Switzerland
    Mol Pharmacol 74:379-91. 2008
    ....
  89. ncbi request reprint GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children
    Yu Hong Deng
    Department of Neurology, Institute of Neurosciences and the 2nd Affiliated Hospital, Guangzhou Medical College, Guangzhou, China
    Epileptic Disord 9:307-14. 2007
    ..This is a further example of the increasingly blurred distinction between generalized and focal categories of specific genetically determined epilepsies. [Published with video sequences]...
  90. ncbi request reprint Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
    Gianpiero L Cavalleri
    Department of Clinical Neurological Sciences and Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland Research Institute, and Division of Neurology, Beaumont Hospital, Dublin, Ireland
    Lancet Neurol 6:970-80. 2007
    ..The Epilepsy Genetics (EPIGEN) Consortium was established to undertake genetic mapping analyses with augmented statistical power to detect variants that influence the development and treatment of common forms of epilepsy...
  91. ncbi request reprint Invited comments on the Shostak and Ottman review
    Bronwyn E Grinton
    Epilepsia 47:1751-2; author reply 1755-6. 2006
  92. pmc Febrile seizures
    Lynette G Sadleir
    Department of Paediatrics, Wellington School of Medicine, University of Otago, Wellington, New Zealand
    BMJ 334:307-11. 2007
  93. ncbi request reprint SRPX2 mutations in disorders of language cortex and cognition
    Patrice Roll
    INSERM UMR491, Universite de la Mediterranee, 13385 Marseille, France
    Hum Mol Genet 15:1195-207. 2006
    ..In the murine brain, Srpx2 protein expression appeared in neurons at birth. The involvement of SRPX2 in these disorders suggests an important role for SRPX2 in the perisylvian region critical for language and cognitive development...
  94. ncbi request reprint Epileptiform EEG abnormalities in children with language regression
    Ingrid E Scheffer
    Neurology 67:1527; author reply 1527. 2006
  95. ncbi request reprint Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females
    Maria Daniela D'Agostino
    Department of Neurology and Neurosurgery, and the Montreal Neurological Institute and Hospital, Quebec, Canada
    Brain 125:2507-22. 2002
    ..This suggests other genetic mechanisms such as mutations in the non-coding regions of the DCX or LIS1 genes, gonadal or somatic mosaicism, and finally mutations of other genes...
  96. ncbi request reprint Genetic variation of CACNA1H in idiopathic generalized epilepsy
    Sarah E Heron
    Ann Neurol 55:595-6. 2004
  97. ncbi request reprint Genetic dissection of the common epilepsies
    Nigel C K Tan
    Department of Neurology, National Neuroscience Institute, Singapore
    Curr Opin Neurol 19:157-63. 2006
    ..A subset of both rare and common variants from a much larger pool of susceptibility genes may contribute to disease risk. We review methods and designs for the genetic dissection of common epilepsies...
  98. ncbi request reprint Early seizures: causal events or predisposition to adult epilepsy?
    Olivier Dulac
    Department of Neuropaediatrics, APHP, Centre de Référence Épilepsies Rares, Necker Enfants Malades Hospital, Paris, France
    Lancet Neurol 6:643-51. 2007
    ..A developmental approach to seizure disorders will aid understanding of epilepsy in adults and improve the design of antiepileptic agents for children and adults...
  99. ncbi request reprint Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants
    Sarah E Heron
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide South Australia, Australia
    Ann Neurol 62:560-8. 2007
    ....