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
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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
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Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan.
TL;DR: In 18 of the 28 patients, flunarizine reduced the severity, duration, or frequency of the hemiplegic attacks, but also a long-term effect on the motor and intellectual development in some patients with AHC.
Journal ArticleDOI
Migraine-like visual aura due to focal cerebral lesions: case series and review.
TL;DR: Any disease process that is able to create a state of neuronal hyperexcitability can increase an individual's susceptibility to the development of cortical spreading depression, the electrophysiological correlate of the visual aura.
Journal ArticleDOI
Cortical spreading depression causes unique dysregulation of inflammatory pathways in a transgenic mouse model of migraine
Else Eising,Reinald Shyti,Peter A C 't Hoen,Lisanne S. Vijfhuizen,Sjoerd M. H. Huisman,Sjoerd M. H. Huisman,Ludo A. M. Broos,Ahmed Mahfouz,Ahmed Mahfouz,Marcel J. T. Reinders,Michel D. Ferrari,Else A. Tolner,Boukje de Vries,Arn M. J. M. van den Maagdenberg +13 more
TL;DR: It is shown that CSD modulates inflammatory processes in both wild-type and mutant brains, but that an additional unique inflammatory signature becomes expressed after CSD in a relevant mouse model of migraine.
Journal ArticleDOI
Episodic ataxia and channelopathies
TL;DR: The possible role of the channelopathies in the causation of some periodic neurological disorders is considered, and the treatment of the episodic ataxias with acetazolamide can sometimes have a dramatic effect.
Journal ArticleDOI
A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility
Hannah Cox,Rod A. Lea,Claire Bellis,Melanie A. Carless,Thomas D. Dyer,Joanne E. Curran,Jac Charlesworth,Jac Charlesworth,Stuart MacGregor,Dale R. Nyholt,Daniel I. Chasman,Paul M. Ridker,Markus Schürks,John Blangero,Lyn R. Griffiths +14 more
TL;DR: Peltonen et al. as discussed by the authors performed a pedigree-based genome-wide association study of the isolated population of Norfolk Island, which has a high prevalence of migraine and identified a high heritability of migraine in the Norfolk Island population.
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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.
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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.
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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.