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ARX-related epileptic encephalopathy

MedGen UID:
1842890
Concept ID:
C5680600
Disease or Syndrome
Orphanet: ORPHA182079

Recent clinical studies

Diagnosis

Akula SK, Quiroz V, D'Gama AM, Chiu MY, Koh HY, Saffari A, Zaman Z, Tam A, Srouji R, Valentine R, Wiltrout K, Pinto A, Harini C, Pearl PL, Poduri A, Ebrahimi-Fakhari D
Ann Clin Transl Neurol 2024 Jun;11(6):1643-1647. Epub 2024 May 6 doi: 10.1002/acn3.52055. PMID: 38711225Free PMC Article
Thai MHN, Gardner A, Redpath L, Mattiske T, Dearsley O, Shaw M, Vulto-van Silfhout AT, Pfundt R, Dixon J, McGaughran J, Pérez-Jurado LA, Gécz J, Shoubridge C
Hum Mutat 2020 Aug;41(8):1407-1424. Epub 2020 Jun 2 doi: 10.1002/humu.24034. PMID: 32383243
Kato M, Koyama N, Ohta M, Miura K, Hayasaka K
Epilepsia 2010 Sep;51(9):1679-84. doi: 10.1111/j.1528-1167.2010.02559.x. PMID: 20384723
Poirier K, Eisermann M, Caubel I, Kaminska A, Peudonnier S, Boddaert N, Saillour Y, Dulac O, Souville I, Beldjord C, Lascelles K, Plouin P, Chelly J, Bahi-Buisson N
Epilepsy Res 2008 Aug;80(2-3):224-8. Epub 2008 May 12 doi: 10.1016/j.eplepsyres.2008.03.019. PMID: 18468866
Wallerstein R, Sugalski R, Cohn L, Jawetz R, Friez M
Clin Neurol Neurosurg 2008 Jun;110(6):631-4. Epub 2008 May 6 doi: 10.1016/j.clineuro.2008.03.007. PMID: 18462864

Prognosis

Thai MHN, Gardner A, Redpath L, Mattiske T, Dearsley O, Shaw M, Vulto-van Silfhout AT, Pfundt R, Dixon J, McGaughran J, Pérez-Jurado LA, Gécz J, Shoubridge C
Hum Mutat 2020 Aug;41(8):1407-1424. Epub 2020 Jun 2 doi: 10.1002/humu.24034. PMID: 32383243

Clinical prediction guides

Han JY, Kim TY, Gwack J, Park J
Int J Mol Sci 2024 Sep 25;25(19) doi: 10.3390/ijms251910327. PMID: 39408661Free PMC Article
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D
J Med Genet 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. PMID: 37879892
Thai MHN, Gardner A, Redpath L, Mattiske T, Dearsley O, Shaw M, Vulto-van Silfhout AT, Pfundt R, Dixon J, McGaughran J, Pérez-Jurado LA, Gécz J, Shoubridge C
Hum Mutat 2020 Aug;41(8):1407-1424. Epub 2020 Jun 2 doi: 10.1002/humu.24034. PMID: 32383243

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