Literature DB >> 29497979

A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.

Alexander Balck1,2, Sinem Tunc1,2, Johanna Schmitz3, Ronja Hollstein3, Frank J Kaiser3, Norbert Brüggemann4,5.   

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Year:  2018        PMID： 29497979     DOI： 10.1007/s12311-018-0931-8

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


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  9 in total

1.  Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.

Authors:  Takahito Wada; Norio Kobayashi; Yoshio Takahashi; Tomoko Aoki; Takako Watanabe; Shinji Saitoh
Journal:  Pediatr Neurol       Date:  2002-01       Impact factor: 3.372

2.  Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.

Authors:  Alexander Balck; Henrike Hanssen; Yorck Hellenbroich; Katja Lohmann; Alexander Münchau
Journal:  J Neurol       Date:  2017-04-28       Impact factor: 4.849

3.  A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

Authors:  Romina Romaniello; Claudio Zucca; Alessandra Tonelli; Sara Bonato; Cinzia Baschirotto; Nicoletta Zanotta; Roberta Epifanio; Andrea Righini; Nereo Bresolin; Maria T Bassi; Renato Borgatti
Journal:  J Neurol Neurosurg Psychiatry       Date:  2010-08       Impact factor: 10.154

4.  Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.

Authors:  Luca Pradotto; Monica Mencarelli; Matteo Bigoni; Alessandra Milesi; Anna Di Blasio; Alessandro Mauro
Journal:  J Neurol Sci       Date:  2016-10-19       Impact factor: 3.181

5.  Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy.

Authors:  J C Jen; H Wang; H Lee; C Sabatti; R Trent; I Hannigan; K Brantberg; G M Halmagyi; S F Nelson; R W Baloh
Journal:  Neurology       Date:  2004-12-28       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

7.  Hereditary myokymia and periodic ataxia.

Authors:  D H VanDyke; R C Griggs; M J Murphy; M N Goldstein
Journal:  J Neurol Sci       Date:  1975-05       Impact factor: 3.181

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 9.  Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.

Authors:  E Mantuano; L Veneziano; C Jodice; M Frontali
Journal:  Cytogenet Genome Res       Date:  2003       Impact factor: 1.636
  9 in total
  1 in total

Review 1.  Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.

Authors:  Jörg Striessnig
Journal:  Front Synaptic Neurosci       Date:  2021-03-03
  1 in total

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