Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

K Hynes,M R Stratton,H Leonard,E Haan,Z A Raisi,S J Turner,D Gill,J Christodoulou,J Gecz,R Smith,N J Brown,M A Bayly,L M Dibbens,I E Scheffer,T D Desai,G Turner,S F Berkovic,P Tarpey

doi:10.1136/jmg.2009.068817

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

K Hynes, M R Stratton + Show 16 more

https://doi.org/10.1136/jmg.2009.068817

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Journal: Journal of Medical Genetics	Publication Date: Sep 14, 2009
Citations: 90

Affiliation: Women's and Children's Hospital, South Australia Pathology, University of Adelaide, Telethon Kids Institute, University of Western Australia, Children's Hospital at Westmead, University of Sydney, Wellcome Sanger Institute, Hunter Genetics

#Protocadherin 19 Mutations #Protocadherin 19 + Show 8 more

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BackgroundEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males. Mutations in the protocadherin 19 (PCDH19) gene have been identified...

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