Literature DB >> 18446307

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

Tracey D Graves, Michael G Hanna.   

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Year:  2008        PMID： 18446307     DOI： 10.1007/s00415-008-0844-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  6 in total

1.  Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.

Authors:  E Mantuano; L Veneziano; M Spadaro; P Giunti; S Guida; M G Leggio; L Verriello; N Wood; C Jodice; M Frontali
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

2.  Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.

Authors:  J C Jen; J Wan; T P Palos; B D Howard; R W Baloh
Journal:  Neurology       Date:  2005-08-23       Impact factor: 9.910

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

Authors:  Louise H Eunson; Tracey D Graves; Michael G Hanna
Journal:  Neurology       Date:  2005-07-26       Impact factor: 9.910

4.  High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

Authors:  C Denier; A Ducros; K Vahedi; A Joutel; P Thierry; A Ritz; G Castelnovo; T Deonna; P Gérard; J L Devoize; A Gayou; B Perrouty; T Soisson; A Autret; J M Warter; A Vighetto; P Van Bogaert; S Alamowitch; E Roullet; E Tournier-Lasserve
Journal:  Neurology       Date:  1999-06-10       Impact factor: 9.910

5.  Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

Authors:  A Escayg; M De Waard; D D Lee; D Bichet; P Wolf; T Mayer; J Johnston; R Baloh; T Sander; M H Meisler
Journal:  Am J Hum Genet       Date:  2000-04-04       Impact factor: 11.025

6.  Clinical spectrum of episodic ataxia type 2.

Authors:  J Jen; G W Kim; R W Baloh
Journal:  Neurology       Date:  2004-01-13       Impact factor: 9.910
  6 in total
  5 in total

Review 1.  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

2.  Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2.

Authors:  Jijun Wan; Hafsa Mamsa; Janine L Johnston; Elizabeth L Spriggs; Harvey S Singer; David S Zee; Alhamza R Al-Bayati; Robert W Baloh; Joanna C Jen
Journal:  Front Neurol       Date:  2011-09-09       Impact factor: 4.003

3.  New CACNA1A deletions are associated to migraine phenotypes.

Authors:  G S Grieco; S Gagliardi; I Ricca; O Pansarasa; M Neri; F Gualandi; G Nappi; A Ferlini; C Cereda
Journal:  J Headache Pain       Date:  2018-08-30       Impact factor: 7.277

Review 4.  Episodic Ataxias: Faux or Real?

Authors:  Paola Giunti; Elide Mantuano; Marina Frontali
Journal:  Int J Mol Sci       Date:  2020-09-05       Impact factor: 5.923

5.  SLC1A3 promotes gastric cancer progression via the PI3K/AKT signalling pathway.

Authors:  Liyi Xu; Jiamin Chen; Litao Jia; Xiao Chen; Faycal Awaleh Moumin; Jianting Cai
Journal:  J Cell Mol Med       Date:  2020-11-03       Impact factor: 5.295
  5 in total

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