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
Modal Gating of Human CaV2.1 (P/Q-type) Calcium Channels: I. The Slow and the Fast Gating Modes and their Modulation by β Subunits
Siro Luvisetto,Tommaso Fellin,Michele Spagnolo,Bruno Hivert,Paul Brust,Michael M. Harpold,Kenneth A. Stauderman,Mark E. Williams,Daniela Pietrobon +8 more
TL;DR: The characterization of two modes of gating of human CaV2.1 channels, the slow mode and the fast mode, which shows different rates of inactivation and different steady-state inactivation depending on the β subtype.
Journal ArticleDOI
Age and gender-dependent alternative splicing of P/Q-type calcium channel EF-hand.
Siao Yun Chang,Tan Fong Yong,Chye Yun Yu,Mui Cheng Liang,Olga Pletnikova,Juan C. Troncoso,Jean-Marc Burgunder,Tuck Wah Soong,Tuck Wah Soong +8 more
TL;DR: A developmental switch in rodents, as well as an age and gender bias in human brain tissues, are observed, suggestive of a possible role of these EF hand splice variants in neurophysiological specialization.
Journal ArticleDOI
Unique disease heritage of the Dutch-German Mennonite population.
TL;DR: The Dutch‐German Mennonites are a religious isolate with foundational roots in the 16th century that provides a strong resource for gene discovery and could lead to the identification of additional disease genes with relevance to the general population.
Journal ArticleDOI
Impairment of neuromuscular transmission in a subgroup of migraine patients.
Anna Ambrosini,Alain Maertens De Noordhout,Giovanna Alagona,Francesca Dalpozzo,Jean Schoenen +4 more
TL;DR: Using single fiber EMG recordings, this work was able to demonstrate subclinical abnormalities of neuromuscular transmission in a subgroup of patients suffering from migraine with aura, which could be related to genetic abnormalities of P/Q Ca2+ channels in certain patients suffering with aura.
Journal ArticleDOI
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Giacomo Garone,Alessandro Capuano,Lorena Travaglini,Federica Graziola,Federica Graziola,Fabrizia Stregapede,Ginevra Zanni,Federico Vigevano,Enrico Bertini,Francesco Nicita +9 more
TL;DR: Clinical and genetic features of PMDs are focused on to help clinicians to recognize, diagnose and treat patients with PMDs as well as to provide an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders.
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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.