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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Phenotypic and genetic analysis of a large family with migraine-associated vertigo
TL;DR: A large multigenerational family with migraine‐associated vertigo (MAV) combining a detailed phenotypic and genetic analysis is described.
Journal ArticleDOI
The impact of pharmacogenetics for migraine.
Roel A. Ophoff,Arn M. J. M. van den Maagdenberg,Krista I Roon,Michel D. Ferrari,Rune R. Frants +4 more
TL;DR: The first step has been taken to identify primary biochemical pathways leading to migraine, and this work can also have implications for the increasing number of additional neurological episodic disorders having the common denominator of channelopathy.
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Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: implications for genetic testing.
TL;DR: It is concluded that common migraine is distinct from FHM in its molecular basis and, therefore, most likely also in its pathophysiology.
Journal ArticleDOI
Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia
Pablo Mir,Ying-Zu Huang,Francesca Gilio,Mark J. Edwards,Alfredo Berardelli,John C. Rothwell,Kailash P. Bhatia +6 more
TL;DR: Patients with PKD show a discrete set of abnormalities in cortical and spinal inhibitory circuits that differ from those seen in primary dystonia and epilepsy, and which may provide clues to the underlying pathophysiology of the disorder.
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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.
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.