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Epilepsy-intellectual disability in females
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〔(【引用サイトリンク】title=Genes2Diseases database )〕 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.〔
== Signs and symptoms ==
EFMR seizures generally began in females when they were infants, with mean onset at 14 months. They were likely to include an accompanying fever and may include convulsions. Seizures were of various types and appeared in clusters. Many seizures of short duration occur over a period of several days. The EEG test results showed "generalized and focal epileptiform abnormalities." Obsessive and aggressive behavioral characteristics and autism were common associated disorders.〔
Over the course of female patients' childhoods, intellectual development was delayed in some cases, normal and then regressive in others and in some cases there was normal intellectual development. 67% of the females had mild to profound intellectual disability (ID) or borderline intellectual functioning. Some of the patients in the study were also with Angelman syndrome, sodium channelopathies or forms of Rett syndrome. The EFMR seizures generally ended later in the girl's childhood (mean age of 12 years), yet some continued into adulthood. Men and women are carriers of the disorder, although men do not generally exhibit EFMR history such as seizures and intellectual development issues, although 5 fathers in the 4 families had obsessive and controlling tendencies. The linkage of chromosome Xq22.1 to EFMR was confirmed in all of the families.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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