Talk:Barakat-Perenthaler syndrome

this is now a well known disease in the genetics field discovered in 2019, which has now been reported on multiple international genetics conferences since then, and the paper that originally reported these findings has been cited more than 30 times (Google Scholar). Seems that the initial worries about COI in the discussion below have become outdated.--46.189.28.88 (talk) 05:56, 14 June 2022 (UTC)

Not yet named?

In none of the references is this disorder so named. It may be WP:TOOSOON. Ifnord (talk) 13:56, 11 April 2020 (UTC)

this disorder is named in OMIM like this https://omim.org/entry/618744 62.238.220.59 (talk) 13:58, 11 April 2020 (UTC)

Are you part of this study? Ifnord (talk) 14:03, 11 April 2020 (UTC)

no 62.238.220.59 (talk) 14:05, 11 April 2020 (UTC)

While I want to assume good faith, it's hard to believe that your only edits have been to include this condition on other articles and to create this draft but that you have no connection to the study. It looks like academic "advertising" and it is unlikely that someone unconnected to the study would write about a condition which affects only some 30 people in the entire world. Ifnord (talk) 14:14, 11 April 2020 (UTC)

I don't completely understand your hostility. I am just new to wikipedia and are interested in metabolic disorders and glucose metabolism; as you can see from the text, it is a rare disorder; therefore 22 described seems quite a lot to me; especially given high consanguinity rates in Pakistan and neighboring countries this disease could likely be a major cause of epilepsy in parts of Asia, and I think therefore it would be relevant to be included in wikipedia. 62.238.220.59 (talk) 14:37, 11 April 2020 (UTC)

I note that both Barakat and Perenthaller list their professional association as "Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands", and that 62.238.220.59 geolocates to about 50km away from there. So, it seems unlikely that you are simply somebody with an interest in the topic and no association with the research at all. -- RoySmith (talk) 14:46, 12 August 2020 (UTC)