Literature DB >> 15173248

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

E Mantuano1, L Veneziano, M Spadaro, P Giunti, S Guida, M G Leggio, L Verriello, N Wood, C Jodice, M Frontali.   

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Year:  2004        PMID： 15173248      PMCID： PMC1735819          DOI： 10.1136/jmg.2003.015396

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  16 in total

1.  Epilepsy and episodic ataxia type 2: family study and review of the literature.

Authors:  Lorenzo Verriello; Giada Pauletto; Annacarmen Nilo; Incoronata Lonigro; Elena Betto; Mariarosaria Valente; Francesco Curcio; Gian Luigi Gigli
Journal:  J Neurol       Date:  2021-05-13       Impact factor: 4.849

2.  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 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

Review 4.  Migraine genetics: an update.

Authors:  J Haan; E E Kors; Kaate R J Vanmolkot; Arn M J M van den Maagdenberg; Rune R Frants; M D Ferrari
Journal:  Curr Pain Headache Rep       Date:  2005-06

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.  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

7.  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

8.  Computational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxia.

Authors:  Sherry-Ann Brown; Leslie M Loew
Journal:  BMC Syst Biol       Date:  2012-06-15

Review 9.  Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia.

Authors:  Sherry-Ann Brown; Leslie M Loew
Journal:  Front Neurosci       Date:  2015-01-21       Impact factor: 4.677

10.  Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Authors:  Cèlia Sintas; Oriel Carreño; Noèlia Fernàndez-Castillo; Roser Corominas; Marta Vila-Pueyo; Claudio Toma; Ester Cuenca-León; Isabel Barroeta; Carles Roig; Víctor Volpini; Alfons Macaya; Bru Cormand
Journal:  Sci Rep       Date:  2017-05-31       Impact factor: 4.379
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