S F Berkovic

Summary

Affiliation: University of Melbourne
Country: Australia

Publications

  1. doi request reprint Recent advances in the molecular genetics of epilepsy
    Michael S Hildebrand
    Department of Medicine, Epilepsy Research Centre, University of Melbourne, Melbourne Brain Centre, Austin Health, 275 Burgundy Street, Heidelberg, Victoria 3084, Australia
    J Med Genet 50:271-9. 2013
  2. doi request reprint 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
    Lysa Boissé Lomax
    Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia
    Brain 136:1146-54. 2013
  3. doi request reprint Evidence for genetic factors in vasovagal syncope: a twin-family study
    Karl Martin Klein
    Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
    Neurology 79:561-5. 2012
  4. ncbi request reprint A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping
    Samuel F Berkovic
    Epilepsy Research Centre and Department of Medicine Neurology, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
    Brain 128:652-8. 2005
  5. ncbi request reprint Treatment with anti-epileptic drugs
    Samuel F Berkovic
    Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Victoria
    Aust Fam Physician 34:1017-20. 2005
  6. 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
  7. 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
  8. 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
  9. 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
  10. ncbi request reprint Hypothalamic hamartoma and seizures: a treatable epileptic encephalopathy
    Samuel F Berkovic
    Epilepsy Research Institute and Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg Melbourne, Australia
    Epilepsia 44:969-73. 2003

Detail Information

Publications133 found, 100 shown here

  1. doi request reprint Recent advances in the molecular genetics of epilepsy
    Michael S Hildebrand
    Department of Medicine, Epilepsy Research Centre, University of Melbourne, Melbourne Brain Centre, Austin Health, 275 Burgundy Street, Heidelberg, Victoria 3084, Australia
    J Med Genet 50:271-9. 2013
    ..Here we discuss the latest developments in clinical genetic testing for epilepsy and describe new molecular genetics platforms that will transform both genetic screening and novel gene discovery...
  2. doi request reprint 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
    Lysa Boissé Lomax
    Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia
    Brain 136:1146-54. 2013
    ..North Sea' progressive myoclonus epilepsy has a homogeneous clinical presentation and relentless disease course allowing ready identification from the other progressive myoclonus epilepsies...
  3. doi request reprint Evidence for genetic factors in vasovagal syncope: a twin-family study
    Karl Martin Klein
    Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
    Neurology 79:561-5. 2012
    ..The role of genetic factors in VVS is debated. We performed a twin-family study to clarify this question and to analyze the putative mode of inheritance...
  4. ncbi request reprint A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping
    Samuel F Berkovic
    Epilepsy Research Centre and Department of Medicine Neurology, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
    Brain 128:652-8. 2005
    ..The locus on chromosome 12 does not contain genes for any other form of PME, nor does it have genes known to be related to cystatin B. This represents a new form of PME and we have designated the locus as EPM1B...
  5. ncbi request reprint Treatment with anti-epileptic drugs
    Samuel F Berkovic
    Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Victoria
    Aust Fam Physician 34:1017-20. 2005
    ..The principles of epilepsy management are accurate diagnosis coupled with education, lifestyle advice, and drug therapy. There are a large number of anti-epileptic drugs now available...
  6. 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...
  7. 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
    ....
  8. 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/)...
  9. 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...
  10. ncbi request reprint Hypothalamic hamartoma and seizures: a treatable epileptic encephalopathy
    Samuel F Berkovic
    Epilepsy Research Institute and Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg Melbourne, Australia
    Epilepsia 44:969-73. 2003
    ..The previously dismal outlook for children with severe seizures associated with this lesion has now dramatically changed. These insights may have implications for other epileptic encephalopathies of childhood...
  11. 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...
  12. ncbi request reprint Febrile seizures: traffic slows in the heat
    Samuel F Berkovic
    Department of Medicine and Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg West, Victoria 3081, Australia
    Trends Mol Med 12:343-4. 2006
    ..This is an important step in unravelling the molecular pathogenesis of this common childhood disorder...
  13. pmc Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
    Samuel F Berkovic
    Department of Medicine, Austin Health and Northern Health, Heidelberg, Victoria 3081, Australia
    Am J Hum Genet 82:673-84. 2008
    ..The heterogeneous pathology in the kidney and brain suggests that SCARB2/Limp2 has pleiotropic effects that may be relevant to understanding the pathogenesis of other forms of glomerulosclerosis or collapse and myoclonic epilepsies...
  14. ncbi request reprint Placebo-controlled study of levetiracetam in idiopathic generalized epilepsy
    S F Berkovic
    Epilepsy Research Center, Heidelberg Repatriation Hospital, Banksia Street, West Heidelberg, Victoria, Australia
    Neurology 69:1751-60. 2007
    ..To assess the efficacy and tolerability of adjunctive levetiracetam in patients with uncontrolled generalized tonic-clonic (GTC) seizures associated with idiopathic generalized epilepsies (IGE)...
  15. 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...
  16. 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...
  17. ncbi request reprint Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy
    N C K Tan
    Epilepsy Research Centre and Department of Medicine Neurology, University of Melbourne, USA
    Neurology 63:1090-2. 2004
    ..The authors suggest the initial association may have arisen by chance...
  18. ncbi request reprint Seizures in family members of patients with hippocampal sclerosis
    R S Briellmann
    Epilepsy Research Institute, Austin and Repatriation Medical Center, University of Melbourne, Australia
    Neurology 57:1800-4. 2001
    ..CONCLUSION: FH of seizures, particularly febrile convulsions, are a risk factor for TLE with HS. These data suggest that a variety of genes contributing to epilepsy phenotypes in relatives may be involved in the pathogenesis of HS...
  19. 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...
  20. ncbi request reprint Idiopathic generalized epilepsies: do sporadic and familial cases differ?
    R S Briellmann
    Epilepsy Research Institute and Department of Medicine Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Melbourne, Australia
    Epilepsia 42:1399-402. 2001
    ..Differences would support the hypothesis of a different etiology for sporadic cases, which has implications for choice of subjects for genetic association studies...
  21. ncbi request reprint New-onset temporal lobe epilepsy in children: lesion on MRI predicts poor seizure outcome
    C G Spooner
    Children s Epilepsy Program, Department of Neurology, Royal Children s Hospital, Melbourne, Victoria, 3052, Australia
    Neurology 67:2147-53. 2006
    ..To determine factors predictive of long-term seizure outcome in children with new-onset temporal lobe epilepsy (TLE)...
  22. doi request reprint Why do seizures in generalized epilepsy often occur in the morning?
    R A B Badawy
    Department of Neurology, Austin Health, Heidelberg, Victoria 3084, Australia
    Neurology 73:218-22. 2009
    ..We used transcranial magnetic stimulation to investigate the effect of diurnal variability on cortical excitability in patients with epilepsy...
  23. 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...
  24. 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...
  25. 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...
  26. 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...
  27. ncbi request reprint Electroencephalographic characterisation of pentylenetetrazole-induced seizures in mice lacking the alpha 4 subunit of the neuronal nicotinic receptor
    C D McColl
    Neurosciences Group, Department of Medicine, Monash University, 5th Floor E Block, Monash Medical Centre, 246 Clayton Road, Clayton, Victoria, 3168, Australia
    Neuropharmacology 44:234-43. 2003
    ..002) and continuous fast activity (P=0.017) compared to controls. These findings demonstrate that intact alpha 4 nAChR subunits provide significant in vivo protection against the proconvulsant effects of GABA antagonism...
  28. pmc Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics
    C Marini
    Epilepsy Research Institute, Austin and Repatriation Medical Centre, University of Melbourne, Melbourne, Victoria 3081, Australia
    J Neurol Neurosurg Psychiatry 74:192-6. 2003
    ..To study the clinical features and genetics of idiopathic generalised epilepsy (IGE) beginning in adult life...
  29. ncbi request reprint Transcallosal resection of hypothalamic hamartomas, with control of seizures, in children with gelastic epilepsy
    J V Rosenfeld
    Department of Neurosurgery, Royal Children s Hospital, Melbourne, Victoria, Australia
    Neurosurgery 48:108-18. 2001
    ..The current opinion is that surgery to treat intrahypothalamic lesions is formidable and that complete excision is not technically achievable. We report our experience with a transcallosal approach to the resection of HHs...
  30. ncbi request reprint Prolonged cortical silent period after transcranial magnetic stimulation in generalized epilepsy
    R A Macdonell
    Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg, Victoria, Australia
    Neurology 57:706-8. 2001
    ..Mean CSP duration was increased at all stimulus intensities, indicating that intracortical inhibition is increased in patients with IGE...
  31. 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...
  32. ncbi request reprint Temporal lobectomy: long-term seizure outcome, late recurrence and risks for seizure recurrence
    Anne M McIntosh
    Epilepsy Research Centre, University of Melbourne, Melbourne, Victoria, Australia
    Brain 127:2018-30. 2004
    ..Late recurrence after initial seizure freedom is not a rare event; risk factors specific to this phenomenon are as yet unidentified...
  33. 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...
  34. doi request reprint Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria
    Kate M Lawrence
    Epilepsy Research Centre, Austin Health and University of Melbourne, Melbourne, Australia
    Epilepsia 51:1902-5. 2010
    ..This finding provided essential information for genetic counseling...
  35. doi request reprint Can changes in cortical excitability distinguish progressive from juvenile myoclonic epilepsy?
    Radwa A B Badawy
    Department of Neurology, Austin Health, Heidelberg, Victoria, Australia
    Epilepsia 51:2084-8. 2010
    ..We used transcranial magnetic stimulation (TMS) to investigate whether there were any characteristic cortical excitability changes in progressive myoclonic epilepsy (PME) compared to juvenile myoclonic epilepsy (JME)...
  36. ncbi request reprint Action myoclonus-renal failure syndrome: a cause for worsening tremor in young adults
    L Vadlamudi
    Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
    Neurology 67:1310-1. 2006
  37. 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...
  38. ncbi request reprint Hypertensive encephalopathy: antecedent to hippocampal sclerosis and temporal lobe epilepsy?
    C Solinas
    Epilepsy Research Institute, University of Melbourne and Austin and Repatriation Medical Center, Melbourne, Victoria, Australia
    Neurology 60:1534-6. 2003
    ..These cases suggest that hypertensive encephalopathy may be a rare form of initial precipitating injury, leading to TLE and HS...
  39. ncbi request reprint Generalized epilepsy in hypothalamic hamartoma: evolution and postoperative resolution
    J L Freeman
    Children s Epilepsy Program, Department of Neurology, Royal Children s Hospital, Parkville, Victoria, Australia
    Neurology 60:762-7. 2003
    ....
  40. 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)...
  41. ncbi request reprint Causes of epilepsies: insights from discordant monozygous twins
    R S Briellmann
    Brain Research Institute and Department of Neurology, Austin and Repatriation Medical Center, Victoria, Australia
    Ann Neurol 49:45-52. 2001
    ..They may be due to occult acquired factors, such as prenatal insults, or to genetic abnormalities resulting from postfertilization genetic processes...
  42. ncbi request reprint Intraoperative monitoring to preserve central visual fields during occipital corticectomy for epilepsy
    J M Curatolo
    Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg, Victoria, Australia
    J Clin Neurosci 7:234-7. 2000
    ..Intraoperative monitoring of the visual cortex using photic stimulation proved to be a reliable technique for preserving central vision during occipital lobe surgery...
  43. ncbi request reprint Video analysis of acute motor and convulsive manifestations in sport-related concussion
    P R McCrory
    University of Melbourne, Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg, Victoria, Australia
    Neurology 54:1488-91. 2000
    ..To describe the motor and convulsive manifestations in acute sports-related head injury...
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. 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...
  49. 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...
  50. doi request reprint Predicting seizure control: cortical excitability and antiepileptic medication
    Radwa A B Badawy
    Department of Neurology, Austin Health, Heidelberg, Australia
    Ann Neurol 67:64-73. 2010
    ..We used transcranial magnetic stimulation to determine the effect of AEDs on cortical excitability in patients with epilepsy and correlated this with a successful response to treatment...
  51. ncbi request reprint Transcallosal resection of hypothalamic hamartomas in patients with intractable epilepsy
    A Simon Harvey
    Children s Epilepsy Program, Royal Children s Hospital, Parkville, Victoria, Australia
    Epileptic Disord 5:257-65. 2003
    ..The operative risks include stroke, short-term memory disturbance, weight gain and minor endocrine disturbances. Based on published data, the transcallosal approach appears to be safer and more effective than other operative strategies...
  52. doi request reprint The frontal lobe in absence epilepsy: EEG-fMRI findings
    P W Carney
    Austin Health, Brain Research Institute, Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia
    Neurology 78:1157-65. 2012
    ..Despite evidence suggesting a role of frontal cortex in seizure generation, group studies have not detected consistent AS-related changes in this region. We hypothesized that only a subgroup may show frontal cortical activation...
  53. 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...
  54. 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...
  55. ncbi request reprint Seizure outcome after temporal lobectomy: current research practice and findings
    A M McIntosh
    Epilepsy Research Institute, Austin and Repatriation Medical Centre, Heidelberg, Melbourne, Australia
    Epilepsia 42:1288-307. 2001
    ..The systematic review of possible risk factors for seizure recurrence provides a basis for planning further research...
  56. 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...
  57. ncbi request reprint Concussive convulsions. Incidence in sport and treatment recommendations
    P R McCrory
    Department of Medicine Neurology, University of Melbourne, Heidelberg, Australia
    Sports Med 25:131-6. 1998
    ..These episodes, although dramatic, are relatively straightforward to manage and all team physicians and those involved in athlete care need to be aware of this condition...
  58. ncbi request reprint Hippocampal sclerosis: development in adult life
    G D Jackson
    Brain Imaging Research Institute, Boronia Centre, West Heidelberg, Howard Florey Institute, Department of Medicine, University of Melbourne, Vic, Australia
    Dev Neurosci 21:207-14. 1999
    ..Hypoxia in the context of seizures may be an important component in hippocampal damage. HS may be a preventable lesion and MRI signal change seen in the neuronal layers of the hippocampus may be an indication for neuroprotection...
  59. 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...
  60. doi request reprint Profiles of psychosocial outcome after epilepsy surgery: the role of personality
    Sarah J Wilson
    School of Behavioural Science, University of Melbourne, Victoria, Australia
    Epilepsia 51:1133-8. 2010
    ..In the same cohort of patients we now investigate the influence of these factors on psychosocial outcome after surgical treatment...
  61. ncbi request reprint What happens now? Ongoing outcome after post-temporal lobectomy seizure recurrence
    Anne M McIntosh
    Epilepsy Research Centre, School of Nursing, Department of Medicine, University of Melbourne, Victoria, Australia
    Neurology 67:1671-3. 2006
    ..Remission after seizures had a significantly poorer outcome than an equivalent period of complete seizure freedom after surgery. Implications for outcome classification are discussed...
  62. ncbi request reprint Paroxysmal motor disorders of sleep: the clinical spectrum and differentiation from epilepsy
    Christopher P Derry
    Epilepsy Research Centre and Department of Medicine Neurology, University of Melbourne, Australia
    Epilepsia 47:1775-91. 2006
    ..The value of recording episodes with video EEG polysomnography is discussed...
  63. ncbi request reprint The psychological impact of a newly diagnosed seizure: losing and restoring perceived control
    Sarah L Velissaris
    School of Behavioural Science, The University of Melbourne, Victoria, 3010, Australia
    Epilepsy Behav 10:223-33. 2007
    ..Pervasive loss of control, anxiety, and depression predicted subsequent seizure recurrence. Overall, a first seizure can trigger a complex adjustment process, which might require therapeutic management in some patients...
  64. 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...
  65. ncbi request reprint Intracortical hyperexcitability in humans with a GABAA receptor mutation
    Marco Fedi
    Department of Medicine, The University of Melbourne, Heidelberg, Victoria, Australia
    Cereb Cortex 18:664-9. 2008
    ..These findings are also likely to represent an important clue to the mechanisms linking this gene defect and the epilepsy phenotype...
  66. ncbi request reprint Direct and indirect measures of verbal relational memory following anterior temporal lobectomy
    Gregory R Savage
    Comprehensive Epilepsy Programme, Austin and Repatriation Medical Centre, Melbourne, Australia
    Neuropsychologia 40:302-16. 2002
    ..Thus when MTL structures are damaged, relational memory appears to be affected without exception, consistent with the tenets of multiple memory systems theory...
  67. pmc Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus
    Verena C Wimmer
    Florey Neuroscience Institutes, The University of Melbourne, Parkville, Victoria, Australia
    J Clin Invest 120:2661-71. 2010
    ..We therefore conclude that Na+ channel beta1 subunits modulate AIS excitability and that epilepsy can arise if this modulation is impaired...
  68. 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...
  69. doi request reprint Multidrug-resistant genotype (ABCB1) and seizure recurrence in newly treated epilepsy: data from international pharmacogenetic cohorts
    Cassandra Szoeke
    Departmentof Neurology, The Royal Melbourne Hospital, The University of Melbourne, Parkville, Victoria, Australia
    Epilepsia 50:1689-96. 2009
    ..Herein we examine the relationship of this polymorphism with seizure recurrence in three independent international cohorts of patients newly treated for epilepsy...
  70. doi request reprint Parahippocampal epilepsy with subtle dysplasia: A cause of "imaging negative" partial epilepsy
    Neelan Pillay
    Brain Research Institute, Heidelberg Heights, Victoria, Australia
    Epilepsia 50:2611-8. 2009
    ..Here we describe imaging features of subtle parahippocampal dysplasia in five cases that were initially assessed as having imaging-negative frontal or temporal lobe epilepsy...
  71. doi request reprint Personality development in the context of intractable epilepsy
    Sarah J Wilson
    Department of Psychology, School of Behavioural Science, University of Melbourne, Melbourne, Victoria, Australia 3010
    Arch Neurol 66:68-72. 2009
    ..To investigate the developmental time frame of epilepsy onset on adult personality traits of neuroticism and extraversion and to consider their role in adjustment to intractable epilepsy...
  72. doi request reprint Cognitive complaints after a first seizure in adulthood: Influence of psychological adjustment
    Sarah L Velissaris
    School of Behavioural Science, The University of Melbourne, Melbourne, Victoria, Australia
    Epilepsia 50:1012-21. 2009
    ..We analyzed this in the context of our previous findings that a sense of loss of control after a newly diagnosed seizure (limited or pervasive) predicts subsequent psychological adjustment trajectories...
  73. ncbi request reprint Transcranial magnetic stimulation and epilepsy
    Richard A L Macdonell
    Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg, Victoria, Australia
    J Clin Neurophysiol 19:294-306. 2002
    ..Repetitive transcranial magnetic stimulation may prove to have a therapeutic role by producing long-lasting cortical inhibition after a train of impulses...
  74. pmc GENETICS. The Human Variome Project
    Richard G H Cotton
    Genomic Disorders Research Centre, Howard Florey Institute, Melbourne, Australia
    Science 322:861-2. 2008
    ..An ambitious plan to collect, curate, and make accessible information on genetic variations affecting human health is beginning to be realized...
  75. 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...
  76. 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
  77. ncbi request reprint Epilepsy in twins: insights from unique historical data of William Lennox
    L Vadlamudi
    Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
    Neurology 62:1127-33. 2004
    ....
  78. ncbi request reprint Deaths due to brain injury among footballers in Victoria, 1968-1999
    P R McCrory
    Department of Medicine Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Vic
    Med J Aust 172:217-9. 2000
    ..To determine the frequency and nature of fatal brain injuries occurring in Australian football...
  79. doi request reprint A neurologist's guide to genome-wide association studies
    S A Mullen
    Epilepsy Research Centre and Department of Medicine Neurology, University of Melbourne, Austin Health, 145 Studley Rd, Heidelberg, Victoria 3084, Australia
    Neurology 72:558-65. 2009
    ..These studies are likely to transform our understanding of complex neurologic diseases in the next few years...
  80. doi request reprint The management of epilepsy in pregnancy
    S P Walker
    Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Vic, Australia
    BJOG 116:758-67. 2009
    ..During pregnancy, important considerations include; therapeutic drug monitoring, surveillance for obstetric complications and vigilance for seizures during the intrapartum and postpartum period...
  81. 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
    ....
  82. pmc NREM arousal parasomnias and their distinction from nocturnal frontal lobe epilepsy: a video EEG analysis
    Christopher P Derry
    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Victoria, Australia
    Sleep 32:1637-44. 2009
    ..To describe the semiological features of NREM arousal parasomnias in detail and identify features that can be used to reliably distinguish parasomnias from nocturnal frontal lobe epilepsy (NFLE)...
  83. pmc Axon initial segment dysfunction in epilepsy
    Verena C Wimmer
    Florey Neuroscience Institutes, University of Melbourne, Parkville 3010, Victoria, Australia
    J Physiol 588:1829-40. 2010
    ..This article highlights the molecular coincidence of epilepsy mutations at the AIS and reviews pathogenic mechanisms converging at the AIS...
  84. 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...
  85. 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
    ....
  86. ncbi request reprint Subtle microscopic abnormalities in hippocampal sclerosis do not predict clinical features of temporal lobe epilepsy
    Renate M Kalnins
    Department of Anatomical Pathology, University of Melbourne, Victoria, Australia
    Epilepsia 45:940-7. 2004
    ..The significance of these findings is unknown. We investigated their frequency, relation to the pattern of HS, and clinical associations...
  87. ncbi request reprint Temporal lobe dysembryoplastic neuroepithelial tumour: significance of discordant interictal spikes
    Angelo Labate
    Brain Research Institute, Heidelberg, Melbourne, Australia
    Epileptic Disord 6:107-14. 2004
    ..We studied the EEG features of epilepsy patients with a temporal lobe DNET to assess the relationship of EEG abnormalities with the localisation of the tumour and the clinical features...
  88. ncbi request reprint EEG in adult-onset idiopathic generalized epilepsy
    Suthida Yenjun
    Epilepsy Research Institute and Department of Medicine Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Melbourne, Australia
    Epilepsia 44:252-6. 2003
    ..In this study, we looked for the differences in the EEG findings of IGE of classic adolescent onset versus adult onset that may suggest syndromic heterogeneity...
  89. ncbi request reprint Sandifer syndrome misdiagnosed as refractory partial seizures in an adult
    Sriudomkajorn Somjit
    Comprehensive Epilepsy Programme, Austin and Repatriation Medical Centre, Melbourne, Australia
    Epileptic Disord 6:49-50. 2004
    ..Published with videosequences)...
  90. ncbi request reprint Early seizures after temporal lobectomy predict subsequent seizure recurrence
    Anne M McIntosh
    Epilepsy Research Centre, School of Nursing and Department of Medicine, University of Melbourne, Victoria, Australia
    Ann Neurol 57:283-8. 2005
    ..4, p = 0.33). We conclude that early postoperative seizures are associated with subsequent seizure recurrence. These findings have implications for patient counseling and the measurement of outcome...
  91. 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...
  92. 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...
  93. ncbi request reprint Effect of antiepileptic medication on bone mineral measures
    S J Petty
    The University of Melbourne, Department of Neurology, The Royal Melbourne Hospital, Victoria, Australia
    Neurology 65:1358-65. 2005
    ..Long-term antiepileptic drug (AED) use has been associated with bone disease, but many previous studies have been limited by inadequate control subjects. We used a cotwin affected sib-pair model to investigate this issue...
  94. 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...
  95. ncbi request reprint Sleep deprivation increases cortical excitability in epilepsy: syndrome-specific effects
    R A B Badawy
    Department of Neurology, Austin Health, Studley Road, Heidelberg, Victoria 3084, Australia
    Neurology 67:1018-22. 2006
    ..To use transcranial magnetic stimulation (TMS) to investigate the hypothesis that sleep deprivation increases cortical excitability in people with epilepsy...
  96. ncbi request reprint Genetic association studies in epilepsy: "the truth is out there"
    Nigel C K Tan
    Epilepsy Research Centre and Department of Medicine Neurology, University of Melbourne, Australia
    Epilepsia 45:1429-42. 2004
    ..We remain cautiously optimistic that with methodologic refinements and multicenter collaborations with large sample sizes, association studies will ultimately be useful in dissecting the genetic basis of common epilepsy syndromes...
  97. pmc Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy
    David N Bowser
    Department of Physiology, University of Melbourne, Victoria 3010, Australia
    Proc Natl Acad Sci U S A 99:15170-5. 2002
    ....
  98. ncbi request reprint Treatment of new-onset epilepsy: seizures beget discussion
    Anne M McIntosh
    Epilepsy Research Centre, and Department of Medicine, University of Melbourne, Melbourne, Victoria 3081, Australia
    Lancet 365:1985-6. 2005
  99. doi request reprint Small temporal pole encephaloceles: a treatable cause of "lesion negative" temporal lobe epilepsy
    Amal Abou-Hamden
    Department of Neurosurgery, Austin Health, Melbourne, Australia
    Epilepsia 51:2199-202. 2010
    ..If encephalocele is suspected, further imaging with high-resolution CT and MRI can be helpful. Temporal polar resection, sparing mesial structures, appears to be curative...
  100. 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...
  101. doi request reprint The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures
    Douglas E Crompton
    Epilepsy Research Centre, Department of Medicine Neurology, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
    Lancet Neurol 8:370-81. 2009
    ..This analysis shows that, although the clinical manifestations of paroxysmal disorders are highly heterogeneous, striking similarities in molecular pathophysiology are seen among many epileptic and non-epileptic paroxysmal phenomena...