First case of compound heterozygosity in Na, K-ATPase gene ATP1A2 in familial hemiplegic migraine

被引：19
|
作者：
Vanmolkot, Kaate R. J.
Stam, Anine H.
Raman, Ashok
Koenderink, Jan B.
de Vries, Boukje
van den Boogerd, Eelke H.
van Vark, Judith
van den Heuvel, Jeroen J. M. W.
Bajaj, Nin
Terwindt, Gisela M.
Haan, Joost
Frants, Rune R.
Ferrari, Michel D.
van den Maagdenberg, Arn M. J. M.
机构：
[1] Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZC Leiden, Netherlands
[2] Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands
[3] Queens Med Ctr, Dept Neurol, Nottingham NG7 2UH, England
[4] Radboud Univ Nijmegen, Nijmegen Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Pharmacol & Toxicol, Nijmegen, Netherlands
[5] Rijnland Hosp, Dept Neurol, Leiderdorp, Netherlands
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2007年 / 15卷 / 08期
关键词：
familial hemiplegic migraine (FHM); ATP1A2; Na; K-ATPase;
D O I：
10.1038/sj.ejhg.5201841
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Familial hemiplegic migraine (FHM) is a rare autosomal-dominant subtype of migraine with aura, associated with hemiparesis during the aura. Here we describe a unique FHM family in which two novel allelic missense mutations in the Na,K-ATPase gene ATP1A2 segregate in the proband with hemiplegic migraine. Both mutations show reduced penetrance in family members of the proband. Cellular survival assays revealed Na,K-ATPase dysfunction for both ATP1A2 mutants, indicating that both mutations are disease causative. This is the first case of compound heterozygosity for any of the known FHM genes.
引用
收藏
页码：884 / 888
页数：5
相关论文
共 50 条
  • [1] First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine
    Kaate R J Vanmolkot
    Anine H Stam
    Ashok Raman
    Jan B Koenderink
    Boukje de Vries
    Eelke H van den Boogerd
    Judith van Vark
    Jeroen J M W van den Heuvel
    Nin Bajaj
    Gisela M Terwindt
    Joost Haan
    Rune R Frants
    Michel D Ferrari
    Arn M J M van den Maagdenberg
    European Journal of Human Genetics, 2007, 15 : 884 - 888
  • [2] First case of compound heterozygosity in familial hemiplegic migraine: two mutations in Na,K-ATPase gene ATP1A2
    Bajaj, N.
    de Vries, B.
    Ferrari, M. D.
    Frants, R. R.
    Haan, J.
    Koenderink, J. B.
    Raman, A.
    Stam, A. H.
    Terwindt, G. M.
    van den Boogerd, E. H.
    van den Heuvel, J. J. M. W.
    van den Maagdenberg, A. M. J. M.
    van Vark, J.
    Vanmolkot, Kaate
    Vanmolkot, K. R. J.
    CEPHALALGIA, 2007, 27 (06) : 584 - 585
  • [3] Two de novo mutations in the Na, K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine
    Vanmolkot, KR
    Kors, EE
    Turk, U
    Turkdogan, D
    Keyser, A
    Broos, LA
    Kia, SK
    van den Heuvel, JJ
    Black, DF
    Haan, J
    Frants, RR
    Barone, V
    Ferrari, MD
    Casari, G
    Koenderink, JB
    van den Maagdenberg, AM
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (05) : 555 - 560
  • [4] Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine
    Kaate R J Vanmolkot
    Esther E Kors
    Ulku Turk
    Dylsad Turkdogan
    Antoine Keyser
    Ludo A M Broos
    Sima Kheradmand Kia
    Jeroen J M W van den Heuvel
    David F Black
    Joost Haan
    Rune R Frants
    Virginia Barone
    Michel D Ferrari
    Giorgio Casari
    Jan B Koenderink
    Arn M J M van den Maagdenberg
    European Journal of Human Genetics, 2006, 14 : 555 - 560
  • [5] Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 in familial hemiplegic migraine
    Vanmolkot, KRJ
    Kors, EE
    Hottenga, J
    Terwindt, GM
    Haan, J
    Hoefnagels, WAJ
    Black, DF
    Sandkuijl, LA
    CEPHALALGIA, 2003, 23 (07) : 576 - 576
  • [6] A Case of Familial Hemiplegic Migraine Associated With a Novel ATP1A2 Gene Mutation
    De Cunto, Angela
    Bensa, Marco
    Tonelli, Alessandra
    PEDIATRIC NEUROLOGY, 2012, 47 (02) : 133 - 136
  • [7] Novel mutations in the Na+,K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions
    Vanmolkot, KRJ
    Kors, EE
    Hottenga, JJ
    Terwindt, GM
    Haan, J
    Hoefnagels, WAJ
    Black, DF
    Sandkuijl, LA
    Frants, RR
    Ferrari, MD
    van den Maagdenberg, AMJM
    ANNALS OF NEUROLOGY, 2003, 54 (03) : 360 - 366
  • [8] Systematic analysis of the familial hemiplegic migraine gene ATP1A2 in migraine with aura
    Todt, U
    Heinze, A
    Zumbroich, V
    Ramirez, A
    Stiller, A
    Goebel, I
    Kubisch, C
    Göbel, H
    CEPHALALGIA, 2003, 23 (07) : 662 - 663
  • [9] A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy
    Costa, Cinzia
    Prontera, Paolo
    Sarchielli, Paola
    Tonelli, Alessandra
    Bassi, Maria Teresa
    Cupini, Letizia Maria
    Caproni, Stefano
    Siliquini, Sabrina
    Donti, Emilio
    Calabresi, Paolo
    CEPHALALGIA, 2014, 34 (01) : 68 - 72
  • [10] A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene
    Guan, Dong-Mei
    Shan, Yuan-Zhuang
    Zhao, Hao-Tian
    Meng, Ying
    Yan, Zhong-Rui
    Zhang, Hai-Lin
    PHARMACOGENOMICS & PERSONALIZED MEDICINE, 2024, 17 : 437 - 442
12345