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Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes
- M. McDermott, I. Aksentijevich, D. Kastner
- Biology, MedicineCell
- 2 April 1999
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B
- R. Wallace, Daowen Wang, J. Mulley
- BiologyNature Genetics
- 1 August 1998
TLDR
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
- O. Steinlein, J. Mulley, S. Berkovic
- Biology, MedicineNature Genetics
- 1 October 1995
TLDR
Incidence and origin of "null" alleles in the (AC)n microsatellite markers.
- D. Callen, A. Thompson, G. Sutherland
- BiologyAmerican journal of human genetics
- 1 May 1993
TLDR
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
- S. Weckhuysen, S. Mandelstam, Peter de Jonghe
- Psychology, MedicineAnnals of neurology
- 1 January 2012
TLDR
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
- R. Wallace, C. Marini, S. Berkovic
- Biology, MedicineNature genetics
- 2001
TLDR
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
- P. Strømme, M. Mangelsdorf, J. Gécz
- Biology, MedicineNature Genetics
- 2002
TLDR
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
- L. Dibbens, P. Tarpey, J. Gécz
- Biology, PsychologyNature Genetics
- 1 June 2008
TLDR
PAK3 mutation in nonsyndromic X-linked mental retardation
- K. Allen, J. Gleeson, C. Walsh
- BiologyNature Genetics
- 1 September 1998
TLDR
Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
- R. Wallace, C. Marini, S. Berkovic
- Biology, MedicineNature Genetics
- 2001
TLDR
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