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Myoclonic epilepsy, progressive, X-linked

MedGen UID:
946105
Concept ID:
CN263077
Disease or Syndrome
OMIM®: 310370

Recent clinical studies

Etiology

Huang S, Zhu S, Li XJ, Li S
Neuroscientist 2019 Oct;25(5):512-520. Epub 2019 Jan 7 doi: 10.1177/1073858418822993. PMID: 30614396Free PMC Article
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ
Cell Transplant 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. PMID: 24816443
Merwick A, O'Brien M, Delanty N
Epilepsia 2012 Sep;53 Suppl 4:81-91. doi: 10.1111/j.1528-1167.2012.03617.x. PMID: 22946725
Matilla-Dueñas A
Adv Exp Med Biol 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. PMID: 22411243
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S
Mayo Clin Proc 2000 May;75(5):475-90. doi: 10.4065/75.5.475. PMID: 10807077

Diagnosis

Lee JS, Lim BC, Kim KJ, Hwang YS, Cheon JE, Kim IO, Seong MW, Park SS, Chae JH
Brain Dev 2015 Feb;37(2):223-9. Epub 2014 May 29 doi: 10.1016/j.braindev.2014.04.012. PMID: 24882692
Merwick A, O'Brien M, Delanty N
Epilepsia 2012 Sep;53 Suppl 4:81-91. doi: 10.1111/j.1528-1167.2012.03617.x. PMID: 22946725
Matilla-Dueñas A
Adv Exp Med Biol 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. PMID: 22411243
Keats BJ
J Commun Disord 2002 Jul-Aug;35(4):355-66. doi: 10.1016/s0021-9924(02)00090-4. PMID: 12160354
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S
Mayo Clin Proc 2000 May;75(5):475-90. doi: 10.4065/75.5.475. PMID: 10807077

Prognosis

Kim YO, Yang JH, Park C, Kim SK, Kim MK, Shin MG, Woo YJ
Brain Dev 2016 Sep;38(8):750-4. Epub 2016 Feb 26 doi: 10.1016/j.braindev.2016.02.008. PMID: 26923721
Matilla-Dueñas A
Adv Exp Med Biol 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. PMID: 22411243
Feigenbaum A, Bergeron C, Richardson R, Wherrett J, Robinson B, Weksberg R
Am J Med Genet 1994 Jan 1;49(1):118-24. doi: 10.1002/ajmg.1320490124. PMID: 8172238
Wienker TF, von Reutern GM, Ropers HH
Hum Genet 1979 May 23;49(1):83-9. PMID: 112032

Clinical prediction guides

Lotti F, Geronzi U, Grosso S
Brain Dev 2019 May;41(5):456-459. Epub 2019 Jan 11 doi: 10.1016/j.braindev.2018.12.008. PMID: 30642617
Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC
Neurology 2002 Aug 13;59(3):348-56. doi: 10.1212/wnl.59.3.348. PMID: 12177367
Wienker TF, von Reutern GM, Ropers HH
Hum Genet 1979 May 23;49(1):83-9. PMID: 112032

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