A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine

被引：23

作者：

Alonso, I ^{[1
]}

Barros, J ^{[1
]}

Tuna, A ^{[1
]}

Seixas, A ^{[1
]}

Coutinho, P ^{[1
]}

Sequeiros, J ^{[1
]}

Silveira, I ^{[1
]}

机构：

[1] UnIGENe, IBMC, P-4150180 Oporto, Portugal

来源：

CLINICAL GENETICS | 2004年 / 65卷 / 01期

关键词：

D O I：

10.1111/j..2004.00187.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：70 / 72

页数：3

共 11 条

[1] Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family [J].

Alonso, I ;

Barros, J ;

Tuna, A ;

Coelho, J ;

Sequeiros, J ;

Silveira, I ;

Coutinho, P .

ARCHIVES OF NEUROLOGY, 2003, 60 (04) :610-614

[2] A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia [J].

Battistini, S ;

Stenirri, S ;

Piatti, M ;

Gelfi, C ;

Righetti, PG ;

Rocchi, R ;

Giannini, F ;

Battistini, N ;

Guazzi, GC ;

Ferrari, M ;

Carrera, P .

NEUROLOGY, 1999, 53 (01) :38-43

[3] Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM [J].

Friend, KL ;

Crimmins, D ;

Phan, TG ;

Sue, CM ;

Colley, A ;

Fung, VSC ;

Morris, JGL ;

Sutherland, GR ;

Richards, RI .

HUMAN GENETICS, 1999, 105 (03) :261-265

[4]

Hans M, 1999, J NEUROSCI, V19, P1610

[5] Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia [J].

Jen, JC ;

Yue, Q ;

Karrim, J ;

Nelson, SF ;

Baloh, RW .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1998, 65 (04) :565-568

[6] Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p [J].

Jodice, C ;

Mantuano, E ;

Veneziano, L ;

Trettel, F ;

Sabbadini, G ;

Calandriello, L ;

Francia, A ;

Spadaro, M ;

Pierelli, F ;

Salvi, F ;

Ophoff, RA ;

Frants, RR ;

Frontali, M .

HUMAN MOLECULAR GENETICS, 1997, 6 (11) :1973-1978

[7] Three new familial hemiplegic migraine mutants affect P/Q-type Ca2+ channel kinetics [J].

Kraus, RL ;

Sinnegger, MJ ;

Koschak, A ;

Glossmann, H ;

Stenirri, S ;

Carrera, P ;

Striessnig, J .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (13) :9239-9243

[8] 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

[9] Hereditary ataxias and spastic paraplegias: Methodological aspects of a prevalence study in Portugal [J].

Silva, MC ;

Coutinho, P ;

Pinheiro, CD ;

Neves, JM ;

Serrano, P .

JOURNAL OF CLINICAL EPIDEMIOLOGY, 1997, 50 (12) :1377-1384

[10] Progressive ataxia due to a missense mutation in a calcium-channel gene [J].

Yue, Q ;

Jen, JC ;

Nelson, SF ;

Baloh, RW .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (05) :1078-1087

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