Episodic ataxia type 2 (disorder)

Known as: Episodic ataxia with nystagmus, Acetazolamide-responsive episodic ataxia syndrome, Episodic Ataxia, Nystagmus-Associated 
 
National Institutes of Health

Papers overview

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Review
2013
Review
2013
The protein kinase ataxia-telangiectasia mutated (ATM) is best known for its role as an apical activator of the DNA damage… (More)
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Review
2008
Review
2008
Genome maintenance is a constant concern for cells, and a coordinated response to DNA damage is required to maintain cellular… (More)
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Review
2007
Review
2007
Episodic ataxia type 2 (EA 2) is a rare neurological disorder of autosomal dominant inheritance resulting from dysfunction of a… (More)
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Highly Cited
2007
Highly Cited
2007
Cellular responses to DNA damage are mediated by a number of protein kinases, including ATM (ataxia telangiectasia mutated) and… (More)
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Highly Cited
2004
Highly Cited
2004
Patients with episodic ataxia type 2 (EA2) can often be successfully treated with acetazolamide. The authors report three… (More)
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Highly Cited
2003
Highly Cited
2003
The function of the ATR (ataxia-telangiectasia mutated- and Rad3-related)-ATRIP (ATR-interacting protein) protein kinase complex… (More)
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Highly Cited
1997
Highly Cited
1997
Point mutations of the CACNA1A gene coding for the alpha 1A voltage-dependent calcium channel subunit are responsible for… (More)
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Highly Cited
1996
Highly Cited
1996
A murine model of ataxia telangiectasia was created by disrupting the Atm locus via gene targeting. Mice homozygous for the… (More)
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Highly Cited
1994
Highly Cited
1994
Episodic ataxia (EA) is a rare, familial disorder producing attacks of generalized ataxia, with normal or near-normal… (More)
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Highly Cited
1992
Highly Cited
1992
Cell cycle checkpoints can enhance cell survival and limit mutagenic events following DNA damage. Primary murine fibroblasts… (More)
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