Hello e-community...I'm posting this a 2nd time in hopes that someone out there might also have a daughter diagnosed with EFMR. My 5 1/2 year old daughter just underwent genetic testing in Boston and tested positive for a mutation of PCDH19. This PCDH19 gene was only discovered in 2008, and evidently this is the first definitive test available for EFMR. Even though the EMFR diagnosis has been around for 10+ years. It also poses a perplexing scenario for genetists because it's inherited through the X chromosome, and only effects girls. The Y chromosome in Men seems to protect against the mutation manifestations, which is the oppositve from what is usually seen in this type of inherited mutation. Very little is out there on EFMR, and they think that it is very under diagnosed. My husband and I have scoured the internet to no avail - does anyone out there know anything about it? The symptoms of EMFR are hard to controll seizure onset in girls in early childhood or infancy, developmental delays and often significant cognitive impairment and often have autistic features. Our daughter has reletively well controlled seizures, tonic clonic w/clusters every 4 weeks to 10 months. She's on a lot of meds. She is verbal and talks a lot, but doesn't say very complicated things. She is also physically active, although pretty clumsy and very easily distracted. Thanks for listening and hope to connect with anyone else also looking for answers.