Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Eleanor Reavey"'
Autor:
Costin Leu, Simona Balestrini, Bridget Maher, Laura Hernández-Hernández, Padhraig Gormley, Eija Hämäläinen, Kristin Heggeli, Natasha Schoeler, Jan Novy, Joseph Willis, Vincent Plagnol, Rachael Ellis, Eleanor Reavey, Mary O'Regan, William O. Pickrell, Rhys H. Thomas, Seo-Kyung Chung, Norman Delanty, Jacinta M. McMahon, Stephen Malone, Lynette G. Sadleir, Samuel F. Berkovic, Lina Nashef, Sameer M. Zuberi, Mark I. Rees, Gianpiero L. Cavalleri, Josemir W. Sander, Elaine Hughes, J. Helen Cross, Ingrid E. Scheffer, Aarno Palotie, Sanjay M. Sisodiya
Publikováno v:
EBioMedicine, Vol 2, Iss 9, Pp 1063-1070 (2015)
Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature mortality. The precise pathophysiology and the genetic architecture of SUDEP r
Externí odkaz:
https://doaj.org/article/c17cbb036c8f454c88b34a60b24d288b
Publikováno v:
Practical Neurology. 17:314-317
Protocadherin 19 (PCDH19)-related epilepsy (OMIM 300088) is a distinctive clinical syndrome limited to females. We describe a 17-year-old girl who presented to a regional epilepsy clinic with a history of recurrent febrile seizures in infancy. Geneti
Publikováno v:
Journal of Medical Genetics. 51:650-658
Mutations in genes encoding voltage-gated sodium channels have emerged as the most clinically relevant genes associated with epilepsy, cardiac conduction defects, skeletal muscle channelopathies and peripheral pain disorders. Geneticists in partnersh
Autor:
Andreas Brunklaus, Rakesh Jain, Rachael Ellis, Sameer M. Zuberi, Ros Jefferson, Supratik Chakraborty, Sarah E. Aylett, Helen Stewart, Sandeep Jayawant, Eleanor Reavey
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 19(4)
Background Mutations in the gene encoding the alpha subunit of the voltage-gated sodium channel SCN1A are associated with several epilepsy syndromes. These range from severe phenotypes including Dravet syndrome to milder phenotypes such as genetic ep
Autor:
Andreas Brunklaus, A. Jollands, S. Joss, Ailsa McLellan, Rachael Ellis, S. MacLeod, N. Williams, Angela Vincent, Mary O'Regan, Eleanor Reavey, K. Stewart, Liam Dorris, Martin Kirkpatrick, Sameer M. Zuberi, Joseph D. Symonds, Bethan Lang, D.T. Pilz
Publikováno v:
European Journal of Paediatric Neurology. 21:e168
Autor:
Liam Dorris, Eleanor Reavey, J. Helen Cross, Gordon Forbes, Alice Jollands, Ruth Williams, Andreas Brunklaus, Bryan Lynch, Sunny Philip, John H. Livingston, Colin D. Ferrie, Ingrid E. Scheffer, Rachael Ellis, Elizabeth Lee, Mary D. King, Sameer M. Zuberi, Richard Appleton, Imelda Hughes
Publikováno v:
Developmental medicine and child neurology. 55(2)
Aim Genetic testing in the epilepsies is becoming an increasingly accessible clinical tool. Mutations in the sodium channel alpha 1 subunit (SCN1A) gene are most notably associated with Dravet syndrome. This is the first study to assess the impact of
Publikováno v:
Brain : a journal of neurology. 135(Pt 8)
Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies have systematically examined the prognostic, clinical and demographic features o
Publikováno v:
Neurology. 76(7)
Objective: Most mutations in SCN1A -related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+, or develop a severe epilepsy such as Dravet syndrome. Our objective was to exami
Publikováno v:
European Journal of Paediatric Neurology. 15:S11