Talk:Epilepsy-intellectual disability in females

FYI
FYI - I'm doing my best to copy edit and organize this article, but it still has a way to go, particularly since I think a lot of the content was translated from a foreign language and the points have become muffled.

I am hoping that once I start getting to finding missing sources that may help a lot.

Anyone in the medical field, though, that can shed light on this would be greatly appreciated. I'm hoping adding the project templates will help with that. (I've been in the medical field on the administrative / operations / claims side so know just enough...)--CaroleHenson (talk) 19:55, 29 December 2011 (UTC)

Immunizations
This topic seems complicated by a couple of things:
 * whether the immunizations triggered the seizures or the seizures may have occurred as the result of a genetic or medical predisposition
 * better vaccines seem to reduce the risk of immunization-triggered seizures
 * it seems like this discussion may warrant it's own article (if there isn't one already) that focuses on the connection between immunizations and seizures in general, not specific to EFMR.

It would be interesting to get a viewpoint about this from someone in the medical field. In the meantime, I pared the information down a bit to what seems most germaine.--CaroleHenson (talk) 20:27, 30 December 2011 (UTC)

Suggested page move

 * The following discussion is an archived discussion of a requested move. Please do not modify it. Subsequent comments should be made in a new section on the talk page. Editors desiring to contest the closing decision should consider a move review. No further edits should be made to this section. 

The result of the move request was: No move. This request effectively became meaningless once the title of the article was moved back to its original title. Per WP:BRD, the move back should have probably been carried out before the move request anyway. If any of the participants feel strongly that either of the titles or  are more appropriate than this one, I suggest they open a new move request that can be assessed unambiguously. &mdash; Amakuru (talk) 14:08, 2 December 2013 (UTC)

Epilepsy in females with intellectual disability → Juberg-Hellman Syndrome – This page was recently moved from a rather offensive name used in the literature to one that I can't find anywhere. The name "Juberg-Hellman Syndrome" is used, however, and I suggest that the page should be moved to that name. Sminthopsis84 (talk) 19:51, 22 November 2013 (UTC)

The current name of this syndrome "Epilepsy in females with intellectual disability" is an invention of Wikipedia and does not appear in the literature. The article should be at Epilepsy and mental retardation limited to females which seems to be the most common form in recent literature. Other popular variants are Epilepsy in females with mental retardation and Epilepsy limited to females with mental retardation. The literature uses the abbreviation EFMR regardless of which long-form is used. The term "Juberg-Hellman Syndrome", in respect to the first doctors to described it, doesn't seem to have caught on (it is only ever used as an alternative in parenthesis). Various parent charities seem to prefer "PCDH19 Female Limited Epilepsy" because it avoids the dreaded "Retardation" word and it makes it sound like we know the cause (the PCDH19 gene). However, the field appears to be in a state of flux and it isn't clear whether PCDH19 is linked to other epilepsies. Nor is the abbreviation FLE used by these charities a wise choice as "Frontal Lobe Epilepsy" got here first.

Wikipedia can't rename a syndrome just because it uses words terms we dislike. I think Epilepsy and mental retardation limited to females is a better choice than the original Epilepsy in females with mental retardation, even though the original matches up better with the EFMR abbreviation. We should follow the best literature practice here and that name appears to be current favourite. Perhaps in future the naming will become clearer. This is far from alone among epilepsy syndromes in having multiple names and genetics is only starting to help with classification, which remains complex. There isn't a one gene = one syndrome pattern, unfortunately. Colin°Talk 21:17, 22 November 2013 (UTC)


 * I would suggest you have a look at the Intellectual Disability which has been re-structured to accomodate the recent changes in DSM5 and various new laws etc regarding the term "mental retardation" it would appear that the research sources, and reesaeachers have been slow to make the required changes in the terminology they use. dolfrog (talk) 21:31, 22 November 2013 (UTC)
 * Oh I fully agree that "mental retardation" as a term should be discouraged and that its continued use is a peculiarity of US medical profession. But the article title here isn't just a random essay title that we can rephrase to suit more enlightened or PC wishes. This is what the syndrome is called. The psychiatrists writing DSM have no authority over naming of epilepsy syndromes -- it just isn't their field. Nobody on the planet calls this syndrome "Epilepsy in females with intellectual disability" and nobody has even suggested it in any literature. Like it or not, our policy of naming must follow usage, not lead. Colin°Talk 23:14, 22 November 2013 (UTC)
 * Given the unpopularity of the suggestion Epilepsy and mental retardation limited to females, that it is apparently used only in the US, and that we do need to settle on a choice for the page title, would it not be a reasonable compromise to use Juberg-Hellman Syndrome as the page name, with the other titles that have been discussed as redirects to it? It looks to me as if "Juberg-Hellman Syndrome" appears in the databases cited because the database builders are effectively proposing an alternative to the inappropriate (and offensive) name. We don't absolutely have to have the most-often used name as the name of the page, and in this case the name is clearly not stable. Another move could be made later, if that name turns out in the future not to be commonly used. Sminthopsis84 (talk) 12:34, 23 November 2013 (UTC)
 * The term "mental retardation" is legal outlawed as disability discrimination, even in the USA, as it is deemed offensive. It would appear that there are some who like to use and retain offensive langauge with regard to the names of syndromes, and those who may hacve these problems. This is called disability discrimination, or victimisation. dolfrog (talk) 14:01, 23 November 2013 (UTC)

Juberg-Hellman Syndrome seems to be a practical alternative, and would provide time for the researchers and academics time to adjust, to legally comply and to use acceptable teminology. dolfrog (talk) 14:08, 23 November 2013 (UTC)


 * I can't really believe what I'm reading here. We don't name articles based on popularity among Wikipedians. Nor on some US bill about terminology in government documents. It isn't "legal outlawed as disability discrimination". Rosa's "Law" isn't that kind of law. We have to follow Article titles policy. We do not get to choose the name of syndromes. There are zero scholarly papers with "Juberg-Hellman Syndrome" in their title. In fact the only time Juberg and Hellman appear in PubMed is their paper on this condition from 1971 . An extensive search of the web, PubMed and books shows nobody calls it "Juberg-Hellman Syndrome". We can't mislead our readers into thinking this is what the syndrome is called. Nor is it our place to suggest a better name and hope researchers and academics adjust to our decision. The term "mental retardation" is still used in scholarly works ( Pub Med search]). If you want to change that, write to the researchers using it and ask them to come up with a better name. -- Colin°Talk 18:43, 23 November 2013 (UTC)

The new name had zero refs in the literature. I have restored it to the previous name where there is at least some refs. We do not get to invent new names. Wikipedia is not here to invent new knowledge but to simply reflect sources. What is with "legally comply and to use acceptable terminology"? Doc James (talk · contribs · email) (if I write on your page reply on mine) 22:45, 23 November 2013 (UTC)
 * About the name "Juberg-Hellman Syndrome": Folks, there seem to be some problems with your literature searches, see here. That lists shows an abstract from 2004 in "Annals of Neurology" that uses the phrase as if the meaning were already obvious, a paper from 2010 in American Journal of Medical Genetics, one from 2012 in Human Mutation, and a French thesis with "syndrome de Juberg-Hellman". (There's also Spanish Mashpedia which according to Google says, I don't see where exactly, "Esta epilepsia también es llamada síndrome de Juberg - Hellman" (This epilepsy is also called Juberg - Hellman syndrome)).  Please also see the two citations on this page that are to databases that use the name Juberg-Hellman syndrome, namely  and.
 * The name is out there. Sminthopsis84 (talk) 23:03, 23 November 2013 (UTC)

The issue was "Epilepsy in females with intellectual disability". There is a big move away from naming conditions after people. Thus I am not sure I agree with the Juberg Hellman syndrome. I am happy with whatever the ICD uses. Doc James (talk · contribs · email) (if I write on your page reply on mine) 23:18, 23 November 2013 (UTC)
 * "Epilepsy in females with intellectual development disorder with PCDH19 mutations" and synonym "Epilepsy in females with mental retardation with PCDH19 mutations", ICD-11 Beta draft Sminthopsis84 (talk) 14:41, 24 November 2013 (UTC)
 * Great so we can potentially switch to that when it is published. Doc James  (talk · contribs · email) (if I write on your page reply on mine) 14:58, 24 November 2013 (UTC)
 * The above discussion is preserved as an archive of a requested move. Please do not modify it. Subsequent comments should be made in a new section on this talk page or in a move review. No further edits should be made to this section.

Moved back again
Moved back from "Epileptic Encephalopathy, Early Infantile, 9" We need discussion first. There was no consensus per the above. Doc James (talk · contribs · email) 04:57, 1 January 2015 (UTC)
 * Okay. "Epileptic Encephalopathy, Early Infantile, 9" came from the OMIM entry. ICD-11 Beta uses "Epilepsy in females with intellectual development disorder with PCDH19 mutations", rather a long title in my opinion. Where did "Epilepsy-intellectual disability in females" come from? Sminthopsis84 (talk) 13:38, 1 January 2015 (UTC)

Yes OMIM gives Likely the second one. Doc James (talk · contribs · email) 13:50, 1 January 2015 (UTC)
 * 1) EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9
 * 2) EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR
 * 3) JUBERG-HELLMAN SYNDROME
 * This ref give "Epilepsy-intellectual disability in females" and "Epilepsy Limited to Females with Intellectual Disability (EFID)"  Doc James  (talk · contribs · email) 13:53, 1 January 2015 (UTC)

Suggested page move / name change
Recent literature is starting to shift away from the current name, “Epilepsy-intellectual disability in females”, which is used on Wikipedia. I would like to propose changing the Wikipedia page title to “PCDH19-related female-limited epilepsy” or “PCDH19 gene-related epilepsy”.

Please find below a breakdown of where I have observed the shift to “PCDH19-related female-limited epilepsy” and/or “PCHD19 gene-related epilepsy” – which started shortly after the PCDH19 gene was discovered in 2008.

Primary Medical Literature Sample:
 * 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. "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
 * Trivisano, Marina et al. PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. Epilepsy Research. 125 (32 – 36) doi: http://dx.doi.org/10.1016/j.eplepsyres.2016.05.015
 * Ikeda H, Imai K, Ikeda H, Shigematsu H, Takahashi Y, Inoue Y, Higurashi N, Hirose S. Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy. Epileptic Disord. 2016 Mar;18(1):26-33. doi: 10.1684/epd.2016.0803
 * Terracciano A, Trivisano M, Cusmai R, De Palma L, Fusco L, Compagnucci C, Bertini E, Vigevano F, Specchio N. PCDH19-related epilepsy in two mosaic male patients. Epilepsia. 2016 Mar;57(3):e51-5. DOI: 10.1111/epi.13295

Secondary Medical Literature Sample:
 * Nordli, Jr., Douglas (2016). Pellock's Pediatric Epilepsy: Diagnosis and Therapy. Springer Publishing Company,. p. 386. ISBN 1617052434.
 * Depienne C, Gourfinkel-An I, Baulac S, et al. Genes in infantile epileptic encephalopathies. In: Noebels JL, Avoli M, Rogawski MA, et al., editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012. Available from: https://www.ncbi.nlm.nih.gov/books/NBK98182/
 * Conway, Erin; Devinsky, Orrin; Schnabel Glick, Courtney. Epilepsy in Children: What Every Parent Needs to Know. Pg 33. ISBN: 1936303787

Patient Registry:
 * The PCDH19 Epilepsy Registry – funded by PCDH19 Alliance, researchers at UCSF Benioff Children’s Hospital and Boston Children’s Hospital: http://pcdh19info.org/the-pcdh19-registry/

International Medical Conferences:
 * 2016 PCDH19 Epilepsy Professional & Symposium, held June 4-5, 2016 at the University of California, San Francisco: http://pcdh19info.org/event/2016-pcdh19-epilepsy-professional-family-symposium/
 * 3rd Edition of the World Conference on PCDH19, held October 24, 2015 in Rome: http://www.pcdh19research.org/en/home-en/

Government Organizations Recognition:
 * National Institute of Health’s Genetic and Rare Diseases Information Center (accessed 12/19/16; last updated 12/1/16): https://rarediseases.info.nih.gov/diseases/10806/pcdh19-related-female-limited-epilepsy
 * U.S. Food and Drug Administration’s Orphan Drug Designation of ganaxolone for PCDH19 female epilepsy on 3/24/15: https://www.accessdata.fda.gov/scripts/opdlisting/oopd/detailedIndex.cfm?cfgridkey=473515

Non-Profit Advocacy Organizations:
 * The Epilepsy Foundation – PCDH19 Epilepsy information (page created June 2015; accessed on 12/19/16): http://www.epilepsy.com/learn/types-epilepsy-syndromes/pcdh19-epilepsy
 * PCDH19 Alliance: http://www.pcdh19info.org/
 * The Cute Syndrome Foundation: http://www.thecutesyndrome.com/
 * Together for the Research on PCDH19 (Italy): http://www.pcdh19research.org/en/home-en/

Djahmei (talk) 20:49, 20 December 2016 (UTC)
 * I would support "PCDH19-related female-limited epilepsy"
 * Doc James (talk · contribs · email) 03:57, 21 December 2016 (UTC)

Interesting case report of treatment with folinic acid

 * Treatment of Low Cerebrospinal Fluid 5-Methyltetrahydrofolate With Leucovorin Improves Seizure Control and Development in PCDH19-Related Epilepsy - in a patient, cerebral folate deficiency was discovered and treated with folinic acid, which improved seizure control. If some further studies are published, or if this is mentioned in a review, it could be also mentioned in this Wikipedia article too. --CopperKettle (talk) 04:10, 17 June 2022 (UTC)