K. Parker
University College London
8 Papers
169 Citations
K. Parker 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 8, co-authored 8 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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•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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Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.
Kate V. Everett,Barry A. Chioza,Christina Georgoula,Ashley Reece,Francesca Capon,K. Parker,Cathy Cord-Udy,Paul M. McKeigue,Sally Mitton,Agostino Pierro,Prern Puri,Hannah M. Mitchison,Eddie M. K. Chung,R. Mark Gardiner +13 more
TL;DR: The two linked chromosomal regions each harbor functional candidate genes that are members of the canonical transient receptor potential (TRPC) family of ion channels and have a potential role in smooth-muscle control and hypertrophy.
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Clinical Study 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,Gower Street +11 more
- 01 Jan 2006
TL;DR: A genome-wide linkage search followed by mutational analysis of the candidate gene SCN9A, which encodes hNa(v)1.7 channels revealed a reduction in fast inactivation, leading to persistent sodium current as mentioned in this paper.
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Benign childhood epilepsy with centrotemporal spikes and the focal sharp wave trait is not linked to the fragile X region.
TL;DR: Results exclude an important candidate gene for this common childhood disorder because the characteristic age-dependent focal sharp wave found on the EEG in this disorder segregates as a dominant trait in families with probands with BCECS.
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