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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Journal ArticleDOI
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.
Maurizio De Fusco,Roberto Marconi,Laura Silvestri,Luigia Atorino,Luca Rampoldi,Letterio Morgante,Andrea Ballabio,Paolo Aridon,Giorgio Casari +8 more
TL;DR: Results show that mutations in the gene ATP1A2 that encodes the α2 subunit of the Na+/K+ pump are associated with familial hemiplegic migraine type 2 (FHM2) linked to chromosome 1q23 (OMIM 602481).
Journal ArticleDOI
Migraine as a Risk Factor for Subclinical Brain Lesions
Mark C. Kruit,Mark A. van Buchem,Paul Hofman,Jacobus T. N. Bakkers,Gisela M. Terwindt,Michel D. Ferrari,Lenore J. Launer +6 more
TL;DR: These population-based findings suggest that some patients with migraine with and without aura are at increased risk for subclinical lesions in certain brain areas.
Journal ArticleDOI
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.
Martin Dichgans,Tobias Freilinger,Gertrud Eckstein,Elena Babini,Bettina Lorenz-Depiereux,Saskia Biskup,Michel D. Ferrari,Jürgen Herzog,Arn M. J. M. van den Maagdenberg,Michael Pusch,Tim M. Strom +10 more
TL;DR: A novel locus for familial hemiplegic migraine is identified on chromosome 2q24 with a heterozygous missense mutation in the neuronal voltage-gated sodium channel gene SCN1A, mutations of which have been associated with epilepsy.
Journal ArticleDOI
Molecular characterization of a neuronal low-voltage-activated T-type calcium channel
Edward Perez-Reyes,Leanne L. Cribbs,Asif N. Daud,Antonio E. Lacerda,Jane Barclay,Magali Williamson,Margaret Fox,M Rees,Jung-Ha Lee +8 more
TL;DR: Based on the channel's distinctive voltage dependence, slow deactivation kinetics, and 7.5-pS single-channel conductance, it is concluded that this channel is a low-voltage-activated T-type calcium channel.
Journal ArticleDOI
Denaturing high-performance liquid chromatography: A review.
Wenzhong Xiao,Peter J. Oefner +1 more
TL;DR: The utility of DHPLC has been extended to the genotyping of known polymorphisms by utilizing the ability of poly(styrene‐divinylbenzene) to resolve single‐stranded DNA molecules of identical size that differ in a single base.
References
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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.