Hum Genet. 1998 Apr;102(4):464-6.

Three novel KCNA1 mutations in episodic ataxia type I families.

Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH.

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Department of Medical Genetics, University of Groningen, The Netherlands. h.scheffer@med.rug.nl

Erratum in

Hum Genet 1998 Jun;102(6):713.

Abstract

Hereditary paroxysmal ataxia, or episodic ataxia (EA), is a rare, genetically heterogeneous neurological disorder characterized by attacks of generalized ataxia. By direct sequence analysis, a different missense mutation of the potassium channel gene (KCNA1) has been identified in three families with EA.

PMID:: 9600245; [PubMed - indexed for MEDLINE]

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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. [Nat Genet. 1994]
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. Nat Genet. 1994 Oct; 8(2):136-40.
Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem. [Hum Mutat. 2000]
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Knight MA, Storey E, McKinlay Gardner RJ, Hand P, Forrest SM. Hum Mutat. 2000 Oct; 16(4):374.
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. [Hum Mol Genet. 1995]
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
Browne DL, Brunt ER, Griggs RC, Nutt JG, Gancher ST, Smith EA, Litt M. Hum Mol Genet. 1995 Sep; 4(9):1671-2.
Review Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). [Audiol Neurootol. 1997]
Review Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).
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Review [Episodic ataxia with myokymia]. [Ryoikibetsu Shokogun Shirizu. ...]
Review [Episodic ataxia with myokymia].
Sasaki H, Yabe I. Ryoikibetsu Shokogun Shirizu. 2002; (37 Pt 6):318-21.

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Cited by 4 PubMed Central articles

Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release. [Dis Model Mech. 2009]
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.
Heeroma JH, Henneberger C, Rajakulendran S, Hanna MG, Schorge S, Kullmann DM. Dis Model Mech. 2009 Nov-Dec; 2(11-12):612-9. Epub 2009 Sep 24.
Structural consequences of Kcna1 gene deletion and transfer in the mouse hippocampus. [Epilepsia. 2007]
Structural consequences of Kcna1 gene deletion and transfer in the mouse hippocampus.
Wenzel HJ, Vacher H, Clark E, Trimmer JS, Lee AL, Sapolsky RM, Tempel BL, Schwartzkroin PA. Epilepsia. 2007 Nov; 48(11):2023-46. Epub 2007 Jul 25.
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. [Neurogenetics. 2007]
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM. Neurogenetics. 2007 Apr; 8(2):131-5. Epub 2006 Nov 29.

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Three novel KCNA1 mutations in episodic ataxia type I families.
Three novel KCNA1 mutations in episodic ataxia type I families.
Hum Genet. 1998 Apr ;102(4):464-6.

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