Three novel KCNA1 mutations in episodic ataxia type I families

H Scheffer; ERP Brunt; GJJ Mol; P van der Vlies; RP Stulp; E Verlind; G Mantel; YN Averyanov; RMW Hofstra; CHCM Buys

Three novel KCNA1 mutations in episodic ataxia type I families

H Scheffer^*, ERP Brunt, GJJ Mol, P van der Vlies, RP Stulp, E Verlind, G Mantel, YN Averyanov, RMW Hofstra, CHCM Buys

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

49 Citations (Scopus)

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.

Original language	English
Pages (from-to)	464-466
Number of pages	3
Journal	HUMAN GENETICS
Volume	102
Issue number	4
Publication status	Published - Apr-1998

Keywords

CHANNEL GENE

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@article{6aa9f53b9e494cd1ae554f6598103fea,

title = "Three novel KCNA1 mutations in episodic ataxia type I families",

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.",

keywords = "CHANNEL GENE",

author = "H Scheffer and ERP Brunt and GJJ Mol and {van der Vlies}, P and RP Stulp and E Verlind and G Mantel and YN Averyanov and RMW Hofstra and CHCM Buys",

year = "1998",

month = apr,

language = "English",

volume = "102",

pages = "464--466",

journal = "HUMAN GENETICS",

issn = "0340-6717",

publisher = "Springer",

number = "4",

}

TY - JOUR

T1 - Three novel KCNA1 mutations in episodic ataxia type I families

AU - Scheffer, H

AU - Brunt, ERP

AU - Mol, GJJ

AU - van der Vlies, P

AU - Stulp, RP

AU - Verlind, E

AU - Mantel, G

AU - Averyanov, YN

AU - Hofstra, RMW

AU - Buys, CHCM

PY - 1998/4

Y1 - 1998/4

N2 - 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.

AB - 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.

KW - CHANNEL GENE

M3 - Article

SN - 0340-6717

VL - 102

SP - 464

EP - 466

JO - HUMAN GENETICS

JF - HUMAN GENETICS

IS - 4

ER -

Three novel KCNA1 mutations in episodic ataxia type I families

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