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Episodic Ataxia

Known as: Ataxia, episodic, Intermittent cerebellar ataxia, Paroxysmal ataxia 
Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.n [HPO… Expand
National Institutes of Health

Papers overview

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2015
2015
Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we… Expand
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Highly Cited
2010
Highly Cited
2010
Episodic ataxia type-2 (EA2) is an inherited movement disorder caused by mutations in the gene encoding the Cav2.1α1 subunit of… Expand
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Review
2007
Review
2007
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination… Expand
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Highly Cited
2005
Highly Cited
2005
Background: Transporters, ion pumps, and ion channels are membrane proteins that regulate selective permeability and maintain… Expand
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Highly Cited
2004
Highly Cited
2004
The authors searched for mutations in CACNA1A in patients with episodic ataxia and describe the clinical spectrum in genetically… Expand
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Highly Cited
2000
Highly Cited
2000
Inactivation of the beta4 subunit of the calcium channel in the mouse neurological mutant lethargic results in a complex… Expand
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Highly Cited
1997
Highly Cited
1997
We describe the clinical and oculographic findings in 4 families with episodic ataxia and interictal nystagmus (EA-2) linked to… Expand
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Highly Cited
1996
Highly Cited
1996
Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been mapped to chromosome 19p13. We… Expand
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Highly Cited
1986
Highly Cited
1986
We describe six kindreds with autosomal dominant episodic ataxia, apparently representing three distinct syndromes. Four kindreds… Expand
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Highly Cited
1978
Highly Cited
1978
From early childhood, eight patients in a kindred had paroxysmal bouts of ataxia, dysarthria, and nystagmus. The disorder was… Expand
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