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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

Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
Wolff M, Brunklaus A, Zuberi SM
Epilepsia 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. PMID: 31904126
Phenotypes, genotypes, and the management of paroxysmal movement disorders.
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

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Paroxysmal movement disorders and episodic ataxias.
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
Ion channels and epilepsy.
Lerche H, Jurkat-Rott K, Lehmann-Horn F
Am J Med Genet 2001 Summer;106(2):146-59. doi: 10.1002/ajmg.1582. PMID: 11579435
Inherited ion channel disorders.
Surtees R
Eur J Pediatr 2000 Dec;159 Suppl 3:S199-203. doi: 10.1007/pl00014403. PMID: 11216900

Diagnosis

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
The complexities of CACNA1A in clinical neurogenetics.
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
Phenotypes, genotypes, and the management of paroxysmal movement disorders.
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
Paroxysmal movement disorders and episodic ataxias.
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
Clinical spectrum of episodic ataxia type 2.
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

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
Wolff M, Brunklaus A, Zuberi SM
Epilepsia 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. PMID: 31904126
Phenotypes, genotypes, and the management of paroxysmal movement disorders.
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
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Clinical spectrum of episodic ataxia type 2.
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

Clinical and genetic characterization of CACNA1A-related disease.
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
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
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
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
Wuttke TV, Jurkat-Rott K, Paulus W, Garncarek M, Lehmann-Horn F, Lerche H
Neurology 2007 Nov 27;69(22):2045-53. Epub 2007 Sep 13 doi: 10.1212/01.wnl.0000275523.95103.36. PMID: 17872363
Clinical spectrum of episodic ataxia type 2.
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

Clinical and genetic characterization of CACNA1A-related disease.
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
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
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
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.
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
Clinical spectrum of episodic ataxia type 2.
Jen J, Kim GW, Baloh RW
Neurology 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50. PMID: 14718690

Recent systematic reviews

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article

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