L M Dibbens

Summary

Affiliation: South Australia
Country: Australia

Publications

  1. ncbi 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
  2. ncbi 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. ncbi 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
  4. ncbi 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
  5. ncbi 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. ncbi 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
  7. ncbi SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure
    L M Dibbens
    Women s and Children s Hospital, North Adelaide, Australia
    Ann Neurol 66:532-6. 2009

Detail Information

Publications7

  1. ncbi 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
    ....
  2. ncbi 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...
  3. ncbi 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...
  4. ncbi 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...
  5. ncbi 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. ncbi 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...
  7. ncbi SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure
    L M Dibbens
    Women s and Children s Hospital, North Adelaide, Australia
    Ann Neurol 66:532-6. 2009
    ..Additionally, we searched for mutations in the PRICKLE1 gene, newly recognized as a cause of PME mimicking ULD...