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Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

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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.
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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.

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Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a family.

TL;DR: It is concluded that the pathological phenotype of this newly classified autosomal dominant cerebellar ataxia, SCA6, is cerebello-olivary atrophy, or more strictly Cerebellar cortical atrophy.
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SB-220453, a potential novel antimigraine agent, inhibits nitric oxide release following induction of cortical spreading depression in the anaesthetized cat.

TL;DR: SB-220453 represents a novel compound to assess the potential benefit of inhibiting SD associated nitric oxide release in neurological disease and no effect was observed on basal systemic haemodynamic parameters or resting cerebral laser Doppler blood flux at any of the doses of SB- 220453 tested.
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A review of the genetic relation between migraine and epilepsy.

TL;DR: It is likely that the development of specific drugs aimed at restoring ion-channel function and/or related cellular signalling pathways might benefit patients with epilepsy as well as those with migraine.
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Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease

TL;DR: Since an increasingly important approach to the identification of genes underlying polygenic disease is to identify "functional candidates" within a critical region and to test their disease association, it becomes increasingly important to appreciate how these ion-channel mechanisms can be implicated in pathophysiology.
References
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Journal ArticleDOI

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

TL;DR: A new method of total RNA isolation by a single extraction with an acid guanidinium thiocyanate-phenol-chloroform mixture is described, providing a pure preparation of undegraded RNA in high yield and can be completed within 4 h.
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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

TL;DR: In this article, the authors used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect, which is expanded and unstable on HD chromosomes.
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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.

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.
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