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Literature DB >> 28455667

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

Alexander Balck¹, Henrike Hanssen^1,2, Yorck Hellenbroich³, Katja Lohmann¹, Alexander Münchau⁴.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2017 PMID： 28455667 DOI： 10.1007/s00415-017-8494-z

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

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6 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. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Authors:
Journal: Am J Hum Genet Date: 2016-07-28 Impact factor: 11.025

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. A general framework for estimating the relative pathogenicity of human genetic variants.

Authors: Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal: Nat Genet Date: 2014-02-02 Impact factor: 38.330

Review 6. 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

6 in total

4 in total

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

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

2. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

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

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

5. A general framework for estimating the relative pathogenicity of human genetic variants.

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

1. A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.

2. Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene.

Review 3. Calcium channelopathies and intellectual disability: a systematic review.

4. Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients.