Literature DB >> 23038654

A novel de novo pathogenic mutation in the CACNA1A gene.

Shinsuke Fujioka, Sruti Rayaprolu, Christina Sundal, Daniel F Broderick, William A Langley, John Shoffner, Lauren C Hyams, Rosa Rademakers, Neill R Graff-Radford, William Tatum, Owen A Ross, Zbigniew K Wszolek.   

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Year:  2012        PMID： 23038654      PMCID： PMC3477248          DOI： 10.1002/mds.25198

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  7 in total

Review 1.  Episodic ataxias 1 and 2.

Authors:  Robert W Baloh
Journal:  Handb Clin Neurol       Date:  2012

Review 2.  Primary episodic ataxias: diagnosis, pathogenesis and treatment.

Authors:  J C Jen; T D Graves; E J Hess; M G Hanna; R C Griggs; R W Baloh
Journal:  Brain       Date:  2007-06-15       Impact factor: 13.501

3.  Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.

Authors:  S H Subramony; Kelly Schott; Robert S Raike; Joel Callahan; Leigh R Langford; Peka S Christova; John H Anderson; Christopher M Gomez
Journal:  Ann Neurol       Date:  2003-12       Impact factor: 10.422

4.  Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias.

Authors:  Sanjeev Rajakulendran; Stephanie Schorge; Dimitri M Kullmann; Michael G Hanna
Journal:  F1000 Biol Rep       Date:  2010-01-18

5.  Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation.

Authors:  Sarah Marti; Robert W Baloh; Joanna C Jen; Dominik Straumann; Hans H Jung
Journal:  Eur Neurol       Date:  2008-04-25       Impact factor: 1.710

6.  Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.

Authors:  D I Zafeiriou; F Lehmann-Horn; E Vargiami; E Teflioudi; A Ververi; K Jurkat-Rott
Journal:  Eur J Paediatr Neurol       Date:  2008-07-03       Impact factor: 3.140

7.  Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2.

Authors:  Tracey D Graves; Paola Imbrici; Esther E Kors; Gisela M Terwindt; Louise H Eunson; Rune R Frants; Joost Haan; Michel D Ferrari; Peter J Goadsby; Michael G Hanna; Arn M J M van den Maagdenberg; Dimitri M Kullmann
Journal:  Neurobiol Dis       Date:  2008-06-19       Impact factor: 5.996
  7 in total
  1 in total

1.  Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population.

Authors:  Jun Li; Yang You; Weihua Yue; Meixiang Jia; Hao Yu; Tianlan Lu; Zhiliu Wu; Yanyan Ruan; Lifang Wang; Dai Zhang
Journal:  PLoS One       Date:  2015-11-13       Impact factor: 3.240
  1 in total

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