Literature DB >> 16043807

New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

Louise H Eunson1, Tracey D Graves, Michael G Hanna.   

Abstract

Episodic ataxia type 2 (EA2) is an autosomal dominant channelopathy characterized by paroxysmal cerebellar ataxia. Previous studies suggest that most EA2 cases are associated with mutations in the alpha1A subunit of the P/Q-type voltage-gated calcium channel gene CACNA1A. In a UK national study, the authors analyzed 15 index cases with typical EA2 and identified two unreported intronic mutations that predict aberrant splicing.

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Year:  2005        PMID： 16043807     DOI： 10.1212/01.wnl.0000169020.82223.dd

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  15 in total

1.  Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity.

Authors:  Tracey D Graves; Michael G Hanna
Journal:  J Neurol       Date:  2008-05-02       Impact factor: 4.849

Review 2.  The Clinical Spectrum of Autosomal-Dominant Episodic Ataxias.

Authors:  Stefan Kipfer; Michael Strupp
Journal:  Mov Disord Clin Pract       Date:  2014-07-28

Review 3.  Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

Authors:  Sanjeev Rajakulendran; Diego Kaski; Michael G Hanna
Journal:  Nat Rev Neurol       Date:  2012-01-17       Impact factor: 42.937

4.  CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

Authors:  Lena Damaj; Alexis Lupien-Meilleur; Anne Lortie; Émilie Riou; Luis H Ospina; Louise Gagnon; Catherine Vanasse; Elsa Rossignol
Journal:  Eur J Hum Genet       Date:  2015-03-04       Impact factor: 4.246

5.  Dominant-negative suppression of Cav2.1 currents by alpha(1)2.1 truncations requires the conserved interaction domain for beta subunits.

Authors:  Robert S Raike; Holly B Kordasiewicz; Randall M Thompson; Christopher M Gomez
Journal:  Mol Cell Neurosci       Date:  2006-12-11       Impact factor: 4.314

6.  Identification of CACNA1A large deletions in four patients with episodic ataxia.

Authors:  Florence Riant; Christelle Lescoat; Katayoun Vahedi; Elsa Kaphan; Annick Toutain; Thierry Soisson; Sylvette R Wiener-Vacher; Elisabeth Tournier-Lasserve
Journal:  Neurogenetics       Date:  2009-07-25       Impact factor: 2.660

Review 7.  Episodic ataxia type 2.

Authors:  Michael Strupp; Andreas Zwergal; Thomas Brandt
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

8.  Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

Authors:  Sanjeev Rajakulendran; Tracey D Graves; Robyn W Labrum; Dimitrios Kotzadimitriou; Louise Eunson; Mary B Davis; Rosalyn Davies; Nicholas W Wood; Dimitri M Kullmann; Michael G Hanna; Stephanie Schorge
Journal:  J Physiol       Date:  2010-02-15       Impact factor: 5.182

Review 9.  The neuronal splicing factor Nova controls alternative splicing in N-type and P-type CaV2 calcium channels.

Authors:  Summer E Allen; Robert B Darnell; Diane Lipscombe
Journal:  Channels (Austin)       Date:  2010-11-01       Impact factor: 2.581

Review 10.  Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.

Authors:  Wolfgang Nachbauer; Michael Nocker; Elfriede Karner; Iva Stankovic; Iris Unterberger; Andreas Eigentler; Rainer Schneider; Werner Poewe; Margarete Delazer; Sylvia Boesch
Journal:  J Neurol       Date:  2014-05       Impact factor: 4.849
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