Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
Roel A. Ophoff,Gisela M. Terwindt,Monique N. Vergouwe,Ronald van Eijk,Peter J. Oefner,Susan M.G. Hoffman,Jane Lamerdin,Harvey W. Mohrenweiser,Dennis E. Bulman,Maurizio Ferrari,Joost Haan,Dick Lindhout,Gert-Jan B. van Ommen,Marten H. Hofker,Michel D. Ferrari,Rune R. Frants +15 more
Reads0
Chats0
TLDR
A brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons is characterized, revealing polymorphic variations, including a (CA)n-repeat (D19S1150), a (CAG) n-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2.About:
This article is published in Cell.The article was published on 1996-11-01 and is currently open access. It has received 2264 citations till now. The article focuses on the topics: Familial hemiplegic migraine & Spinocerebellar ataxia type 6.read more
Citations
More filters
Journal ArticleDOI
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
K.M. Gorman,Esther Meyer,Detelina Grozeva,Egidio Spinelli,Amy McTague,Amy McTague,Alba Sanchis-Juan,Keren J. Carss,Keren J. Carss,Emily Bryant,Adi Reich,Amy L Schneider,Ronit M. Pressler,Michael A. Simpson,G D Debelle,Evangeline Wassmer,Jenny Morton,D Sieciechowicz,E Jan-Kamsteeg,Alex R. Paciorkowski,Mary D. King,Mary D. King,J H Cross,Annapurna Poduri,Heather C Mefford,Ingrid E. Scheffer,Tobias B. Haack,Gary McCullagh,John Millichap,Gemma L. Carvill,Jill Clayton-Smith,Eamonn R. Maher,F L Raymond,Manju A. Kurian,Manju A. Kurian +34 more
TL;DR: Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission, likely to be important in the development of involuntary movements and epilepsy.
Journal ArticleDOI
Multimodal functional imaging of prolonged neurological deficits in a patient suffering from familial hemiplegic migraine
Alexander Gutschalk,Rainer Kollmar,Alexander Mohr,Marcus Henze,Nicole Ille,Markus Schwaninger,Marius Hartmann,Stefan Hähnel,Uwe Haberkorn,André Rupp,Uta Meyding-Lamadé +10 more
TL;DR: Positron emission tomography obtained on the 6th day revealed glucose-hypometabolism in left hemisphere's fronto-basal cortex, caudate nucleus, and thalamus, which provides evidence for a primary neuronal dysfunction causing the prolonged neurological deficits in FHM.
Journal ArticleDOI
Papillary renal cell carcinoma: analysis of germline mutations in the MET proto-oncogene in a clinic-based population
N. M. Lindor,Christopher Dechet,M H Greene,Robert B. Jenkins,M T Zincke,Amy L. Weaver,Melissa L. Wilson,Horst Zincke,Wanguo Liu +8 more
TL;DR: MET proto-oncogene germline mutation screening does not appear to be clinically indicated in patients with PRCC without additional evidence for a genetic predisposition.
Journal ArticleDOI
Genetic neurological channelopathies.
TL;DR: Hanna et al. as mentioned in this paper discussed the clinical, genetic and electrophysiological features of a range of neurological channelopathies that are caused by mutations in single genes, and the possible role of ion-channel functional and genetic variation in predisposing individuals to common forms of human epilepsy and migraine are also considered.
Journal ArticleDOI
Searching for migraine genes: exclusion of 290 cM out of the whole human genome.
L. Monari,M. Mochi,Maria Lucia Valentino,C. Arnaldi,Pietro Cortelli,A. De Monte,Giulia Pierangeli,G. Prologo,Chiara Scapoli,Stefano Soriani,Pasquale Montagna +10 more
TL;DR: Five chromosomal regions surrounding the candidate genes 5HT1D and 5HT2A were analyzed, indicating the probable exclusion of these regions as sites of migraine genes in the authors' population.
References
More filters
Journal ArticleDOI
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
TL;DR: A new method of total RNA isolation by a single extraction with an acid guanidinium thiocyanate-phenol-chloroform mixture is described, providing a pure preparation of undegraded RNA in high yield and can be completed within 4 h.
Journal ArticleDOI
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
Marcy E. MacDonald,Christine Ambrose,Mabel P. Duyao,Richard H. Myers,Carol Lin,Lakshmi Srinidhi,Glenn Barnes,Sherryl A.M. Taylor,Marianne James,Nicolet Groot,Heather MacFarlane,Barbara Jenkins,Mary Anne Anderson,Nancy S. Wexler,James F. Gusella,Gillian P. Bates,Sarah Baxendale,Holger Hummerich,Susan F. Kirby,Mike North,S. Youngman,Richard Mott,Günther Zehetner,Zdenek Sedlacek,Annemarie Poustka,Anna-Maria Frischauf,Hans Lehrach,Alan Buckler,Deanna M. Church,Lynn Doucette-Stamm,Michael Conlon O'Donovan,Laura Riba-Ramirez,Manish A. Shah,Vincent P. Stanton,Scott A. Strobel,Karen M. Draths,Jennifer L. Wales,Peter B. Dervan,David E. Housman,Michael R. Altherr,Rita Shiang,Leslie M. Thompson,Thomas J. Fielder,John J. Wasmuth,Danilo A. Tagle,John Valdes,Lawrence W. Elmer,Marc W. Allard,Lucio H. Castilla,Manju Swaroop,Kris Blanchard,Francis S. Collins,Russell G. Snell,Tracey Holloway,Kathleen Gillespie,Nicole A. Datson,Duncan Shaw,Peter S. Harper +57 more
TL;DR: In this article, the authors used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect, which is expanded and unstable on HD chromosomes.
Journal Article
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
Manish A. Shah,Nicole A. Datson,Lakshmi Srinidhi,Vincent P. Stanton,Marcy E. MacDonald,Marc W. Allard,S. Youngman,Anna-Maria Frischauf,Richard Mott,KM Draths,Günther Zehetner,C. O’Donovan,Thomas J. Fielder,Bruce G. Jenkins,Manju Swaroop,Sherryl A.M. Taylor,Lynn Doucette-Stamm,Heather MacFarlane,Scott A. Strobel,H. E. McFarlane,Alan Buckler,Nicolet Groot,Holger Hummerich,Deanna M. Church,M. A. Anderson,Marianne James,Glenn Barnes,M. Christine,Francis S. Collins,Mabel P. Duyao,Peter B. Dervan,Gillian P. Bates,T Holloway,Peter S. Harper,TW Mcdonald,M North,K Blanchard,John J. Wasmuth,D. Shaw,Hans Lehrach,Danilo A. Tagle,Annemarie Poustka,David E. Housman,T. Huntington,Zdenek Sedlacek,Laura Riba,Susan F. Kirby,Carol Lin,Richard H. Myers,Leslie M. Thompson,Russell G. Snell,Michael Conlon O'Donovan,K Gillespie,Rita Shiang,Nancy S. Wexler,Christine Ambrose,J. F. Gusella,Sarah Baxendale,N. Groat,John Valdes +59 more
TL;DR: The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.
Journal ArticleDOI
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
TL;DR: It is found that most single base changes in up to 200-base fragments could be detected as mobility shifts and the interspersed repetitive sequences of human, Alu repeats are highly polymorphic.
Journal ArticleDOI
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Harry T. Orr,Ming Yi Chung,Sandro Banfi,Thomas J. Kwiatkowski,Antonio Servadio,Arthur L. Beaudet,Alanna E. McCall,Lisa A. Duvick,Laura P.W. Ranum,Huda Y. Zoghbi +9 more
TL;DR: There is a direct correlation between the size of the (CAG)n repeat expansion and the age–of–onset of SCA1, with larger alleles occurring in juvenile cases.