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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymuş F, Scantlebury MH, Yeşil G, Rosenfeld JA, Türkyılmaz A, Sağer SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R. Accogli A, et al. Among authors: scantlebury mh. Brain Commun. 2023 Aug 17;5(5):fcad222. doi: 10.1093/braincomms/fcad222. eCollection 2023. Brain Commun. 2023. PMID: 37794925 Free PMC article.
A model of symptomatic infantile spasms syndrome.
Scantlebury MH, Galanopoulou AS, Chudomelova L, Raffo E, Betancourth D, Moshé SL. Scantlebury MH, et al. Neurobiol Dis. 2010 Mar;37(3):604-12. doi: 10.1016/j.nbd.2009.11.011. Epub 2009 Nov 26. Neurobiol Dis. 2010. PMID: 19945533 Free PMC article.
Age-dependent consequences of status epilepticus: animal models.
Scantlebury MH, Heida JG, Hasson HJ, Velísková J, Velísek L, Galanopoulou AS, Moshé SL. Scantlebury MH, et al. Epilepsia. 2007;48 Suppl 2:75-82. doi: 10.1111/j.1528-1167.2007.01069.x. Epilepsia. 2007. PMID: 17571355 Free article.
A retrospective study on aetiology based outcome of infantile spasms.
Karvelas G, Lortie A, Scantlebury MH, Duy PT, Cossette P, Carmant L. Karvelas G, et al. Among authors: scantlebury mh. Seizure. 2009 Apr;18(3):197-201. doi: 10.1016/j.seizure.2008.09.006. Epub 2008 Oct 30. Seizure. 2009. PMID: 18976934 Free article.
Modeling new therapies for infantile spasms.
Chudomelova L, Scantlebury MH, Raffo E, Coppola A, Betancourth D, Galanopoulou AS. Chudomelova L, et al. Among authors: scantlebury mh. Epilepsia. 2010 Jul;51 Suppl 3(Suppl 3):27-33. doi: 10.1111/j.1528-1167.2010.02605.x. Epilepsia. 2010. PMID: 20618396 Free PMC article. Review.
52 results