T
Tarpey Ps
Publications - 1
Citations - 337
Tarpey Ps is an academic researcher. The author has contributed to research in topics: Protocadherin & Epilepsy. The author has an hindex of 1, co-authored 1 publications receiving 312 citations.
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X-Linked Protocadherin 19 Mutations Cause Female-Limited Epilepsy and Cognitive Impairment. Dibbens LM,
Geneviève Albouy,Annabelle Darsaud,S. Gais,Sterpenich,Gilles Vandewalle,Gustave Moonen,Evelyne Balteau,A. Luxen,Christophe Phillips,Tarpey Ps,Hynes K,Bayly Ma,IE Scheffer,Smith R,Bomar J,Sutton E,Vandeleur L,Shoubridge C,Sarah Edkins,Turner Sj,Claire Stevens,Tofts C,Cole J,Kelly Halliday,Lee R,West S,Sara Widaa,Wray P,Jon W. Teague,Ed Dicks,Andy Menzies,Andy Jenkinson,Rebecca Shepherd,Aziz Mazarib,Kivity S,Kim Hg,Paul Q. Thomas,E. Haan,Ryan S,McKee S,Michael R. Stratton,Mulley Jc,J Gecz +42 more
TL;DR: Seven protocadherin 19 (PCDH19) gene mutations in seven families with EFMR resulted in the introduction of a premature termination codon and two missense mutations were predicted to affect adhesiveness of PCDH19 through impaired calcium binding.