✦ LIBER ✦

P125 A family with episodic ataxia type 2 carrying a new frameshift mutation in the CACNA1A-gene

✍ Scribed by T. Lönnqvist; P. Hämäläinen; H. Heiskala; H. Pihko

Book ID: 114359993
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 40 KB
Volume: 13
Category: Article
ISSN: 1090-3798
DOI: 10.1016/s1090-3798(09)70183-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

New mutation of CACNA1A gene in episodic

New mutation of CACNA1A gene in episodic ataxia type 2

✍ Koki Nikaido; Nobutada Tachi; Kazuhiro Ohya; Takahito Wada; Hiroyuki Tsutsumi 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB

Late-onset episodic ataxia type 2 associ

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene

✍ Ester Cuenca-León; Isabel Banchs; Selma A. Serra; Pilar Latorre; Noèlia Fernànde 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 732 KB

Identification of novel and recurrent CA

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

✍ Elide Mantuano; Silvia Romano; Liana Veneziano; Cinzia Gellera; Barbara Castello 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 246 KB

Complete Loss of P/Q Calcium Channel Act

Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2

✍ Serena Guida; Flavia Trettel; Stefano Pagnutti; Elide Mantuano; Angelita Tottene 📂 Article 📅 2001 🏛 American Society of Human Genetics 🌐 English ⚖ 458 KB

397 The clinical phenotype of a child wi

397 The clinical phenotype of a child with a novel calcium channel gene (CACNA1A) mutation associated with episodic ataxia type 2 and absence epilepsy

✍ S.M. Zuberi; L.H. Eunson; M.G. Hanna; J.B.P. Stephenson; V. Ramesh 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 142 KB

A new hyperekplexia family with a recess

A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene

✍ Evelien Zoons; Ieke B. Ginjaar; Paul A.D. Bouma; Johannes A. Carpay; Marina A.J. 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 703 KB