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Episodic ataxia, type 2, and epilepsy

MedGen UID:
865150
Concept ID:
C4016713
Finding
Synonym: EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
 
OMIM®: 601011

Professional guidelines

PubMed

Silveira-Moriyama L, Kovac S, Kurian MA, Houlden H, Lees AJ, Walker MC, Roze E, Paciorkowski AR, Mink JW, Warner TT
Dev Med Child Neurol 2018 Jun;60(6):559-565. Epub 2018 Mar 30 doi: 10.1111/dmcn.13744. PMID: 29600549

Recent clinical studies

Etiology

Fernández-Alvarez E, Perez-Dueñas B
Handb Clin Neurol 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. PMID: 23622292
Rajakulendran S, Graves TD, Labrum RW, Kotzadimitriou D, Eunson L, Davis MB, Davies R, Wood NW, Kullmann DM, Hanna MG, Schorge S
J Physiol 2010 Jun 1;588(Pt 11):1905-13. Epub 2010 Feb 15 doi: 10.1113/jphysiol.2009.186437. PMID: 20156848Free PMC Article
Pietrobon D
Mol Neurobiol 2002 Feb;25(1):31-50. doi: 10.1385/MN:25:1:031. PMID: 11890456
Surtees R
Eur J Pediatr 2000 Dec;159 Suppl 3:S199-203. doi: 10.1007/pl00014403. PMID: 11216900
Terwindt GM, Ophoff RA, Haan J, Sandkuijl LA, Frants RR, Ferrari MD
Eur J Hum Genet 1998 Jul-Aug;6(4):297-307. doi: 10.1038/sj.ejhg.5200206. PMID: 9781035

Diagnosis

Hommersom MP, van Prooije TH, Pennings M, Schouten MI, van Bokhoven H, Kamsteeg EJ, van de Warrenburg BPC
J Neurol 2022 Jun;269(6):3094-3108. Epub 2021 Nov 22 doi: 10.1007/s00415-021-10897-9. PMID: 34806130
Stendel C, D'Adamo MC, Wiessner M, Dusl M, Cenciarini M, Belia S, Nematian-Ardestani E, Bauer P, Senderek J, Klopstock T, Pessia M
Int J Mol Sci 2020 May 27;21(11) doi: 10.3390/ijms21113810. PMID: 32471306Free PMC Article
Silveira-Moriyama L, Kovac S, Kurian MA, Houlden H, Lees AJ, Walker MC, Roze E, Paciorkowski AR, Mink JW, Warner TT
Dev Med Child Neurol 2018 Jun;60(6):559-565. Epub 2018 Mar 30 doi: 10.1111/dmcn.13744. PMID: 29600549
Fernández-Alvarez E, Perez-Dueñas B
Handb Clin Neurol 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. PMID: 23622292
Jen J, Kim GW, Baloh RW
Neurology 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50. PMID: 14718690

Therapy

Silveira-Moriyama L, Kovac S, Kurian MA, Houlden H, Lees AJ, Walker MC, Roze E, Paciorkowski AR, Mink JW, Warner TT
Dev Med Child Neurol 2018 Jun;60(6):559-565. Epub 2018 Mar 30 doi: 10.1111/dmcn.13744. PMID: 29600549
Scoggan KA, Friedman JH, Bulman DE
Can J Neurol Sci 2006 Feb;33(1):68-72. doi: 10.1017/s0317167100004728. PMID: 16583725
Jen J, Kim GW, Baloh RW
Neurology 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50. PMID: 14718690

Prognosis

Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
Stendel C, D'Adamo MC, Wiessner M, Dusl M, Cenciarini M, Belia S, Nematian-Ardestani E, Bauer P, Senderek J, Klopstock T, Pessia M
Int J Mol Sci 2020 May 27;21(11) doi: 10.3390/ijms21113810. PMID: 32471306Free PMC Article
Jen J, Kim GW, Baloh RW
Neurology 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50. PMID: 14718690

Clinical prediction guides

Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
Stendel C, D'Adamo MC, Wiessner M, Dusl M, Cenciarini M, Belia S, Nematian-Ardestani E, Bauer P, Senderek J, Klopstock T, Pessia M
Int J Mol Sci 2020 May 27;21(11) doi: 10.3390/ijms21113810. PMID: 32471306Free PMC Article
Choi JH, Seo JD, Choi YR, Kim MJ, Shin JH, Kim JS, Choi KD
Neurol Sci 2015 Aug;36(8):1393-6. Epub 2015 Mar 18 doi: 10.1007/s10072-015-2157-6. PMID: 25784583
Magis D, Boon E, Coppola G, Daron A, Schoenen J
Cephalalgia 2012 Nov;32(15):1147-9. Epub 2012 Aug 31 doi: 10.1177/0333102412459572. PMID: 22942164
Jen J, Kim GW, Baloh RW
Neurology 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50. PMID: 14718690

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