Article
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Nature genetics - 1 Jun 2008
Dibbens Leanne M, Tarpey Patrick S, Hynes Kim, Bayly Marta A, Scheffer Ingrid E, Smith Raffaella, Bomar Jamee, Sutton Edwina, Vandeleur Lucianne, Shoubridge Cheryl, Edkins Sarah, Turner Samantha J, Stevens Claire, O'Meara Sarah, Tofts Calli, Barthorpe Syd, Buck Gemma, Cole Jennifer, Halliday Kelly, Jones David, Lee Rebecca, Madison Mark, Mironenko Tatiana, Varian Jennifer, West Sofie, Widaa Sara, Wray Paul, Teague John, Dicks Ed, Butler Adam, Menzies Andrew, Jenkinson Andrew, Shepherd Rebecca, Gusella James F, Afawi Zaid, Mazarib Aziz, Neufeld Miriam Y, Kivity Sara, Lev Dorit, Lerman-Sagie Tally, Korczyn Amos D, Derry Christopher P, Sutherland Grant R, Friend Kathryn, Shaw Marie, Corbett Mark, Kim Hyung-Goo, Geschwind Daniel H, Thomas Paul, Haan Eric, Ryan Stephen, McKee Shane, Berkovic Samuel F, Futreal P Andrew, Stratton Michael R, Mulley John C, Gécz Jozef
Abstract excerpt
Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inheritance and an unusual expression pattern. Disorders arising from mutations on the X chromosome are typically characterized by affected males and unaffected carrier females. In contrast, EFMR spares transmitting males and affects only carrier females. Aided by systematic resequencing of 737 X chromosome genes, we...
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