X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

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...

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Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2008
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2756413/
https://ncbi.nlm.nih.gov/pubmed/18469813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.149
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