Epilepsy-intellectual disability in females

Epilepsy-intellectual disability in females
Other namesEIEE9, EFMR, GEF+ syndrome, epilepsy-intellectual disability in females,[1] Juberg-Hellman syndrome[2][3] epilepsy limited to females with intellectual disability (EFID)[1]

Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominantly females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally accompanied by varying degrees of cognitive impairment.[4][5][6][7] The striking pattern of onset seizures at a young age, genetic testing and laboratory results, potential developmental delays or developmental regression and associated disorders, eases diagnosis.

The National Institutes of Health Office and Rare Disease Research characterizes PCDH19 gene-related epilepsy as a rare disorder.[8] Although formal epidemiologic data is not available, results from diagnostic screenings indicate that approximately 1 out of 10 girls who have seizure onset before five years of age may have PCDH19 mutations.[9][10][11]

  1. ^ a b Stevenson RE, Holden KR, Rogers RC, Schwartz CE (May 2012). "Seizures and X-linked intellectual disability". European Journal of Medical Genetics. 55 (5): 307–12. doi:10.1016/j.ejmg.2012.01.017. PMC 3531238. PMID 22377486.
  2. ^ Carol Perez-Iratxeta; Peer Bork; Miguel A. Andrade. "Genes2Diseases database". Archived from the original on 2013-12-02. Retrieved 2013-11-22.
  3. ^ "Entry – #300088 – Developmental and Epileptic Encephalopathy 9; DEE9 – OMIM". omim.org.
  4. ^ Depienne, C; LeGeurn, E (2012). "PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder". Human Mutation. 33 (4): 627–634. doi:10.1002/humu.22029. PMID 22267240. S2CID 40463330.
  5. ^ Higurashi, N.; Nakamura, M.; Sugai, M.; Ohfu, M.; Sakauchi, M.; Sugawara, Y.; Nakamura, K.; Kato, M.; Usui, D.; Mogami, Y.; Fujiwara, Y.; Ito, T.; Ikeda, H.; Imai, K.; Takahashi, Y.; Nukui, M.; Inoue, T.; Okazaki, S.; Kirino, T.; Tomonoh, Y.; Inoue, T.; Takano, K.; Shimakawa, S.; Hirose, S. (2013). "PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy". Epilepsy Research. 106 (1–2): 191–199. doi:10.1016/j.eplepsyres.2013.04.005. PMID 23712037. S2CID 20561773.
  6. ^ "PCDH19 Alliance". Retrieved August 22, 2016.
  7. ^ Specchio, N; Marini, C; Terracciano, A (2011). "Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations". Epilepsia. 52 (7): 1251–1257. doi:10.1111/j.1528-1167.2011.03063.x. PMID 21480887.
  8. ^ "PCDH19-related female-limited epilepsy | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2016-08-22.
  9. ^ Depienne, Christel; Bouteiller, Delphine; Keren, Boris; Cheuret, Emmanuel; Poirier, Karine; Trouillard, Oriane; Benyahia, Baya; Quelin, Chloé; Carpentier, Wassila (2009-02-13). "Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females". PLOS Genet. 5 (2): e1000381. doi:10.1371/journal.pgen.1000381. ISSN 1553-7404. PMC 2633044. PMID 19214208.
  10. ^ Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, et al. (January 2011). "Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females". Human Mutation. 32 (1): E1959–75. doi:10.1002/humu.21373. PMC 3033517. PMID 21053371.
  11. ^ Johnston, Michael (2016). Neurobiology of Disease. Oxford University Press. pp. 307–309. ISBN 978-0199937844.