Literature DB >> 27272039

Pearls & Oy-sters: Episodic ataxia type 2: Case report and review of the literature.

Elan L Guterman1, Brian Yurgionas2, Alexandra B Nelson2.   

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Year:  2016        PMID： 27272039      PMCID： PMC4898315          DOI： 10.1212/WNL.0000000000002743

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


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  11 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.  Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

Authors:  R A Ophoff; G M Terwindt; M N Vergouwe; R van Eijk; P J Oefner; S M Hoffman; J E Lamerdin; H W Mohrenweiser; D E Bulman; M Ferrari; J Haan; D Lindhout; G J van Ommen; M H Hofker; M D Ferrari; R R Frants
Journal:  Cell       Date:  1996-11-01       Impact factor: 41.582

3.  An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.

Authors:  J L Steckley; G C Ebers; M Z Cader; R S McLachlan
Journal:  Neurology       Date:  2001-10-23       Impact factor: 9.910

Review 4.  Episodic neurological channelopathies.

Authors:  Devon P Ryan; Louis J Ptácek
Journal:  Neuron       Date:  2010-10-21       Impact factor: 17.173

5.  Diagnostic delay in psychogenic nonepileptic seizures.

Authors:  M Reuber; G Fernández; J Bauer; C Helmstaedter; C E Elger
Journal:  Neurology       Date:  2002-02-12       Impact factor: 9.910

Review 6.  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

Review 7.  Acetazolamide-responsive ataxia.

Authors:  Vikas Kotagal
Journal:  Semin Neurol       Date:  2013-05-15       Impact factor: 3.420

8.  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

9.  Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

Authors:  S Guida; F Trettel; S Pagnutti; E Mantuano; A Tottene; L Veneziano; T Fellin; M Spadaro; K Stauderman; M Williams; S Volsen; R Ophoff; R Frants; C Jodice; M Frontali; D Pietrobon
Journal:  Am J Hum Genet       Date:  2001-02-01       Impact factor: 11.025

10.  Synaptic gain-of-function effects of mutant Cav2.1 channels in a mouse model of familial hemiplegic migraine are due to increased basal [Ca2+]i.

Authors:  Mariano N Di Guilmi; Tiantian Wang; Carlota Gonzalez Inchauspe; Ian D Forsythe; Michel D Ferrari; Arn M J M van den Maagdenberg; J Gerard G Borst; Osvaldo D Uchitel
Journal:  J Neurosci       Date:  2014-05-21       Impact factor: 6.167
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  4 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.  The complexities of CACNA1A in clinical neurogenetics.

Authors:  Marina P Hommersom; Teije H van Prooije; Maartje Pennings; Meyke I Schouten; Hans van Bokhoven; Erik-Jan Kamsteeg; Bart P C van de Warrenburg
Journal:  J Neurol       Date:  2021-11-22       Impact factor: 6.682

Review 3.  Acute Cerebellar Inflammation and Related Ataxia: Mechanisms and Pathophysiology.

Authors:  Md Sorwer Alam Parvez; Gen Ohtsuki
Journal:  Brain Sci       Date:  2022-03-10

4.  Cognitive deficits in episodic ataxia type 2 mouse models.

Authors:  Pauline Bohne; Damian Boden-El Mourabit; Mareike Josten; Melanie D Mark
Journal:  Hum Mol Genet       Date:  2021-09-15       Impact factor: 6.150
  4 in total

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