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- Q3813663 subject Q8420486.
- Q3813663 abstract "Epilepsy-intellectual disability in females also known as epileptic encephalopathy, early infantile, 9 (EIEE9), and previously called epilepsy-intellectual disability in females, Juberg-Hellman syndrome and epilepsy limited to females with intellectual disability (EFID), has been identified through the incidence of female seizure sufferers in a family over several generations. The first family was reported in 1971 in the Journal of Pediatrics. The striking pattern of onset at a young age, seizure patterns, test and laboratory results, potential developmental delays or developmental regression and associated disorders, eases diagnosis. Genetic markers have not yet been developed to an extent that they can be used for diagnosis in individual cases or small families.A study conducted at the Epilepsy Research Centre at the University of Melbourne's Department of Medicine estimated in 2007 that two thirds of EFMR patients have borderline intellectual functioning or intellectual disability. There appears to be a connection to depression, autism, obsessive and aggressive behaviors and other psychiatric disorders.".
- Q3813663 omim "300088".
- Q3813663 wikiPageExternalLink www.epilepsyrome2011.org.
- Q3813663 wikiPageExternalLink pcdh19.
- Q3813663 wikiPageExternalLink 1514.abstract.
- Q3813663 wikiPageExternalLink www.pcdh19info.org.
- Q3813663 wikiPageExternalLink www.pcdh19research.org.
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- Q3813663 wikiPageWikiLink Q8420486.
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- Q3813663 name "Epilepsy-intellectual disability in females".
- Q3813663 omim "300088".
- Q3813663 type Disease.
- Q3813663 type Thing.
- Q3813663 type Q12136.
- Q3813663 comment "Epilepsy-intellectual disability in females also known as epileptic encephalopathy, early infantile, 9 (EIEE9), and previously called epilepsy-intellectual disability in females, Juberg-Hellman syndrome and epilepsy limited to females with intellectual disability (EFID), has been identified through the incidence of female seizure sufferers in a family over several generations. The first family was reported in 1971 in the Journal of Pediatrics.".
- Q3813663 label "Epilepsy-intellectual disability in females".
- Q3813663 name "Epilepsy-intellectual disability in females".