R H Wallace
Affiliation: Women's and Children's Hospital
- Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plusR H Wallace
The Bionomics Women s and Children s Hospital Research Facility, Thebarton, South Australia, Australia, 5031
Am J Hum Genet 68:859-65. 2001..On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%...
- Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizuresR H Wallace
Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia, Australia
Nat Genet 28:49-52. 2001..We found that the mutation in GABRG2 (encoding the gamma2-subunit) abolished in vitro sensitivity to diazepam, raising the possibility that endozepines do in fact exist and have a physiological role in preventing seizures...
- Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1BR H Wallace
Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, Australia
Neurology 58:1426-9. 2002..Site-specific mutation within SCN1B remains a rare cause of GEFS(+), and the authors found no evidence to implicate SCN2B in this syndrome...
- Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasmsR 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...
- Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21R H Wallace
Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, Australia
J Med Genet 33:308-12. 1996..The support for linkage involving a major gene, as opposed to an alternative hypothesis of a complex inheritance pattern, relied upon the assumption of low penetrance...
- Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1BR H Wallace
Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women s and Children s Hospital, North Adelaide, SA, Australia
Nat Genet 19:366-70. 1998....
- Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel functionR 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...
- LGI1 mutations in temporal lobe epilepsiesS 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...
- Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizuresR H Wallace
Queensland Brain Institute, University of Queensland, Brisbane, QLD, 4072 Australia
Neurology 70:653-5. 2008
- X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARXIngrid 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...
- A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsyO K Steinlein
Institute of Human Genetics, University of Bonn, Germany
Nat Genet 11:201-3. 1995..The mutation is present in all 21 available affected family members and in four obligate carriers, but not in 333 healthy control subjects...