Three novel KCNA1 mutations in episodic ataxia type I families

被引：53

作者：

Scheffer, H

Brunt, ERP

Mol, GJJ

van der Vlies, P

Stulp, RP

Verlind, E

Mantel, G

Averyanov, YN

Hofstra, RMW

Buys, CHCM

机构：

[1] Univ Groningen, Dept Med Genet, NL-9713 AW Groningen, Netherlands

[2] Univ Groningen Hosp, Dept Neurol, Groningen, Netherlands

[3] Univ Rotterdam Hosp, Dept Neurol, Rotterdam, Netherlands

[4] Moscow Med Acad, Clin Nervous Dis, Moscow, Russia

来源：

HUMAN GENETICS | 1998年 / 102卷 / 04期

关键词：

D O I：

10.1007/s004390050722

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

收藏

页码：464 / 466

页数：3

相关论文

共 9 条

[1] Episodic ataxia results from voltage-dependent potassium channels with altered functions [J].

Adelman, JP ;

Bond, CT ;

Pessia, M ;

Maylie, J .

NEURON, 1995, 15 (06) :1449-1454

[2] IDENTIFICATION OF 2 NEW KCNA1 MUTATIONS IN EPISODIC ATAXIA MYOKYMIA FAMILIES [J].

BROWNE, DL ;

BRUNT, ERP ;

GRIGGS, RC ;

NUTT, JG ;

GANCHER, ST ;

SMITH, EA ;

LITT, M .

HUMAN MOLECULAR GENETICS, 1995, 4 (09) :1671-1672

[3] EPISODIC ATAXIA MYOKYMIA SYNDROME IS ASSOCIATED WITH POINT MUTATIONS IN THE HUMAN POTASSIUM CHANNEL GENE, KCNA1 [J].

BROWNE, DL ;

GANCHER, ST ;

NUTT, JG ;

BRUNT, ERP ;

SMITH, EA ;

KRAMER, P ;

LITT, M .

NATURE GENETICS, 1994, 8 (02) :136-140

[4]

Kramer P. L., 1994, American Journal of Human Genetics, V55, pA191

[5] A SIMPLE SALTING OUT PROCEDURE FOR EXTRACTING DNA FROM HUMAN NUCLEATED CELLS [J].

MILLER, SA ;

DYKES, DD ;

POLESKY, HF .

NUCLEIC ACIDS RESEARCH, 1988, 16 (03) :1215-1215

[6] Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 [J].

Ophoff, RA ;

Terwindt, GM ;

Vergouwe, MN ;

vanEijk, R ;

Oefner, PJ ;

Hoffman, SMG ;

Lamerdin, JE ;

Mohrenweiser, HW ;

Bulman, DE ;

Ferrari, M ;

Haan, J ;

Lindhout, D ;

vanOmmen, GJB ;

Hofker, MH ;

Ferrari, MD ;

Frants, RR .

CELL, 1996, 87 (03) :543-552

[7] ANTIBODIES SPECIFIC FOR DISTINCT KV SUBUNITS UNVEIL A HETEROOLIGOMERIC BASIS FOR SUBTYPES OF ALPHA-DENDROTOXIN-SENSITIVE K+ CHANNELS IN BOVINE BRAIN [J].

SCOTT, VES ;

MUNIZ, ZM ;

SEWING, S ;

LICHTINGHAGEN, R ;

PARCEJ, DN ;

PONGS, O ;

DOLLY, JO .

BIOCHEMISTRY, 1994, 33 (07) :1617-1623

[8] MAPPING THE GENE FOR ACETAZOLAMIDE RESPONSIVE HEREDITARY PARYOXYSMAL CEREBELLAR-ATAXIA TO CHROMOSOME 19P [J].

VONBREDERLOW, B ;

HAHN, A ;

KOOPMAN, WJ ;

EBERS, GC ;

BULMAN, DE .

HUMAN MOLECULAR GENETICS, 1995, 4 (02) :279-284

[9] Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha(1A)-voltage-dependent calcium channel [J].

Zhuchenko, O ;

Bailey, J ;

Bonnen, P ;

Ashizawa, T ;

Stockton, DW ;

Amos, C ;

Dobyns, WB ;

Subramony, SH ;

Zoghbi, HY ;

Lee, CC .

NATURE GENETICS, 1997, 15 (01) :62-69