X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment-Reference-Cited by-同舟云学术

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

Published:2008-05-11 Issue:6 Volume:40 Page:776-781
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.149.pdf

Reference24 articles.

1. Ryan, S.G. et al. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nat. Genet. 17, 92–95 (1997).

2. Juberg, R.C. & Hellman, C.D. A new familial form of convulsive disorder and mental retardation limited to females. J. Pediatr. 79, 726–732 (1971).

3. Fabisiak, K. & Erickson, R.P. A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms. Clin. Genet. 38, 353–358 (1990).

4. Scheffer, I.E. et al. Epilepsy and mental retardation limited to females: an under-recognised disorder. Brain 131, 918–927 (2008).

5. Wolverton, T. & Lalande, M. Identification and characterization of three members of a novel subclass of protocadherins. Genomics 76, 66–72 (2001).

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