L M Dibbens

Summary

Affiliation: South Australia
Country: Australia

Publications

  1. ncbi request reprint NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity
    L M Dibbens
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Genes Brain Behav 6:750-5. 2007
  2. 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
  3. pmc Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way
    John C Mulley
    Epilepsy Research Program, Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
    Genome Med 1:33. 2009
  4. 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
  5. ncbi request reprint A polygenic heterogeneity model for common epilepsies with complex genetics
    L M Dibbens
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Genes Brain Behav 6:593-7. 2007
  6. doi request reprint Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
    L M Dibbens
    Epilepsy Research Program, SA Pathology at Women s and Children s Hospital, 72 King William Rd, North Adelaide, SA 5006, South Australia
    Neurology 76:1514-9. 2011
  7. ncbi request reprint Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
    R H Wallace
    Centre for Medical Genetics, Department of Laboratory Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Neurology 61:765-9. 2003
  8. doi request reprint The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies
    L M Dibbens
    Epilepsy Research Program, SA Pathology at Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Neurosci Lett 453:162-5. 2009
  9. doi request reprint Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
    Kim Hynes
    SA Pathology, Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
    J Med Genet 47:211-6. 2010
  10. pmc Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
    Leanne M Dibbens
    Epilepsy Research Program, SA Pathology at Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Hum Mol Genet 18:3626-31. 2009

Collaborators

Detail Information

Publications19

  1. ncbi request reprint NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity
    L M Dibbens
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Genes Brain Behav 6:750-5. 2007
    ..These data raise the possibility that photosensitive epilepsy may arise from defective interaction of NEDD4-2 with as yet unidentified accessory or target proteins...
  2. 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...
  3. pmc Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way
    John C Mulley
    Epilepsy Research Program, Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
    Genome Med 1:33. 2009
    ....
  4. 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...
  5. ncbi request reprint A polygenic heterogeneity model for common epilepsies with complex genetics
    L M Dibbens
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Genes Brain Behav 6:593-7. 2007
    ..The genetic architecture so far emerging from these results is consistent with what we have designated as a polygenic heterogeneity model for the epilepsies with complex genetics...
  6. doi request reprint Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
    L M Dibbens
    Epilepsy Research Program, SA Pathology at Women s and Children s Hospital, 72 King William Rd, North Adelaide, SA 5006, South Australia
    Neurology 76:1514-9. 2011
    ..Despite both sister pairs having a PCDH19 mutation, neither parent in each family was a heterozygous carrier of the mutation. The possibility of parental mosaicism of PCDH19 mutations was investigated...
  7. ncbi request reprint Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
    R H Wallace
    Centre for Medical Genetics, Department of Laboratory Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Neurology 61:765-9. 2003
    ..Infantile spasms (IS), or West syndrome, is a severe epileptic encephalopathy that is usually symptomatic. In some cases, no etiology is found and there is a family history of epilepsy...
  8. doi request reprint The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies
    L M Dibbens
    Epilepsy Research Program, SA Pathology at Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Neurosci Lett 453:162-5. 2009
    ....
  9. doi request reprint Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
    Kim Hynes
    SA Pathology, Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
    J Med Genet 47:211-6. 2010
    ..Mutations in the protocadherin 19 (PCDH19) gene have been identified in seven unrelated families with EFMR...
  10. pmc Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
    Leanne M Dibbens
    Epilepsy Research Program, SA Pathology at Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Hum Mol Genet 18:3626-31. 2009
    ..3 deletion. The odds ratio is 68 (95% confidence interval 29-181), indicating a pathogenic lesion predisposing to epilepsy with complex inheritance and incomplete penetrance for the IGE component of the phenotype in multiplex families...
  11. 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
    ....
  12. 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...
  13. 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...
  14. 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
    ....
  15. 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...
  16. 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...
  17. 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
  18. 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...
  19. 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...