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

Familial hemiplegic migraine, episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 are allelic disorders of the CACNA1A gene (coding for the α(1A) subunit of P/Q calcium channels), usually associated with different types of mutations (missense, protein truncating, and expansion, respectiv...

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Bibliografiske detaljer
Main Authors: Guida, Serena, Trettel, Flavia, Pagnutti, Stefano, Mantuano, Elide, Tottene, Angelita, Veneziano, Liana, Fellin, Tommaso, Spadaro, Maria, Stauderman, Kenneth A., Williams, Mark E., Volsen, Stephen, Ophoff, Roel A., Frants, Rune R., Jodice, Carla, Frontali, Marina, Pietrobon, Daniela
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2001
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274487/
https://ncbi.nlm.nih.gov/pubmed/11179022
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