34 Papers
421 Citations
M Rees is an academic researcher from University College London. The author has contributed to research in topics: Genetic linkage & Epilepsy. The author has an hindex of 20, co-authored 34 publications.
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Papers
SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes
Caroline Fertleman,Mark D. Baker,K. Parker,Sarah Moffatt,F. V. Elmslie,Bjarke Abrahamsen,Johan Ostman,Norbert Klugbauer,John N. Wood,R. Mark Gardiner,M Rees +10 more
TL;DR: A genome-wide linkage search followed by mutational analysis of the candidate gene SCN9A, which encodes hNa(v)1.7, identified eight missense mutations in 11 families and 2 sporadic cases of PEPD mutants that revealed a reduction in fast inactivation, leading to persistent sodium current.
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Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the Cacna2d2 Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells
Jane Barclay,N Balaguero,Marina Mione,Susan L. Ackerman,Verity A. Letts,Jens Brodbeck,C Canti,Alon Meir,Karen M. Page,Kenro Kusumi,Edward Perez-Reyes,Eric S. Lander,Wayne N. Frankel,RM Gardiner,Annette C. Dolphin,M Rees +15 more
TL;DR: These observations document the first mammalian α2δ mutation and complete the association of each of the major classes of voltage-dependent Ca2+ channel subunits with a phenotype of ataxia and epilepsy in the mouse.
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Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
F. V. Elmslie,M Rees,Magali Williamson,Michael Patrick Kerr,Marianne J. Kjeldsen,K. A. Pang,Anders Sundqvist,M. L. Friis,David Chadwick,Alan Richens,Athanasios Covanis,M. Santos,Alexis Arzimanoglou,Chrysostomos P. Panayiotopoulos,David Curtis,William P Whitehouse,RM Gardiner +16 more
TL;DR: Significant evidence for linkage with heterogeneity was found to polymorphic loci encompassing the region in which the gene encoding the alpha7 subunit of nAChR (CHRNA7) maps on chromosome 15q14, which contributes to genetic susceptibility to JME in a majority of the families studied.
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The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function.
Jens Brodbeck,Anthony Davies,Jo-Maree Courtney,Alon Meir,Nuria Balaguero,C Canti,Fraser J. Moss,Karen M. Page,Wendy S. Pratt,Steven P. Hunt,Jane Barclay,M Rees,Annette C. Dolphin +12 more
TL;DR: The mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and cerebellar ataxia, and co-expression with the truncated mutant α2δ-2 protein reduced current density, indicating that it may contribute to the du phenotype.
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•Journal Article
Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.
William P Whitehouse,M Rees,David Curtis,Anders Sundqvist,K. Parker,Eddie M. K. Chung,Diana Baralle,RM Gardiner +7 more
TL;DR: Observations indicate that genetic heterogeneity exists within this epilepsy phenotype, and EJM1 in the HLA region of chromosome 6p predisposing to idiopathic generalized epilepsy (IGE) in the families of patients with juvenile myoclonic epilepsy (JME).
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