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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Hereditary neuralgic amyotrophy: Evidence for genetic homogeneity and mapping to chromosome 17q25
Joan E. Pellegrino,Roberta A.V. George,Jacquelyn Biegel,Martin R. Farlow,Kathy Gardner,Judy Caress,Mark J. Brown,Timothy R. Rebbeck,Thomas D. Bird,Phillip F. Chance +9 more
TL;DR: Analysis of DNA from a human/mouse somatic cell hybrid with linked markers suggests that band 17q25 harbors the HNA locus and defines a specific interval and a precise cytogenetic location in chromosome 17Q25 for this disorder.
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Channelopathies: ion channel defects linked to heritable clinical disorders
TL;DR: Progress made in the complementary fields of molecular genetics and cellular electrophysiology which has led to a better understanding of voltage gated ion channelopathies in humans and mice are reviewed.
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Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2
Elide Mantuano,Silvia Romano,Liana Veneziano,Cinzia Gellera,Barbara Castellotti,Sara Caimi,D. Testa,Margherita Estienne,Giovanna Zorzi,Marianna Bugiani,Yusuf A. Rajabally,Maria J Garcìa Barcina,S. Servidei,Aurora Panico,Marina Frontali,Caterina Mariotti +15 more
TL;DR: In this paper, the authors performed a mutational screening in a group of 43 unrelated patients and found 15 CACNA1A mutations, including missense, protein truncating, and aberrant splicing mutations.
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Calcium channelopathies in the central nervous system.
TL;DR: Calcium channelopathies in the central nervous system provide a model to study the important roles that calcium channels play in neuronal function and add to a growing list ofChannelopathies causing paroxysmal neurologic disturbance and progressive neurodegeneration.
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Association of migraine and ESR1 G325C polymorphism.
Agustín Oterino,Julio Pascual,Carlos Ruı́z de Alegrı́a,Natalia Valle,Jesus Castillo,Yolanda Bravo,Felix Gonzalez,Pablo Sánchez-Velasco,Amalia Cayón,Francisco Leyva-Cobián,Ana Alonso-Arranz,Pedro Muñoz +11 more
TL;DR: ESR1 G325C polymorphism is associated with migraine in the authors' population and women carrying the C352C genotype were over 3 times more likely to suffer from migraine than those carrying the G325G genotype.
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.
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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.