PCDH19 mutations in Dravet-like syndrome

PCDH19 is the gene for EFMR (Epilepsy and mental retardation limited to females), a familial X-linked epilepsy which only affects females.  This paper describes mutations in PCDH19 in patients with a phenotype resembling Dravet syndrome.

It will be interesting to see whether mutations in PCDH19 can be identified in a significant subset of patients with Dravet syndrome negative for SCN1A mutations. Ingo

This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.

Please quote this blog (APA format) as

Helbig, I. PCDH19 mutations in Dravet-like syndrome. Retrieved [enter date], from http://www.euroepinomics.wordpress.com

2 thoughts on “PCDH19 mutations in Dravet-like syndrome

  1. Pingback: Mutation intolerance – why some genes withstand mutations and others don’t | Beyond the Ion Channel

  2. Pingback: The OMIM epileptic encephalopathy genes – a 2014 review | Beyond the Ion Channel

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