Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/28282
Title: A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1
Authors: Imbrici, Paola
Gualandi, Francesca
D'Adamo, Maria Cristina
Masieri, Marina Taddei
Cudia, Paola
De Grandis, Domenico
Mannucci, Roberta
Nicoletti, Ildo
Tucker, Stephen J.
Ferlini, Alessandra
Pessia, Mauro
Keywords: Ataxia
Confocal microscopy
Ion channels
Issue Date: 2008
Publisher: Elsevier Ltd.
Citation: Imbrici, P., Gualandi, F., D'Adamo, M. C., Masieri, M. T., Cudia, P., De Grandis, D.,... Pessia, M. (2008). A novel KCNA1 mutation identified in an italian family affected by episodic ataxia type 1. Neuroscience, 157(3), 577-587.
Abstract: Episodic ataxia type 1 (EA1) is a rare human neurological syndrome characterized by continuous myokymia and attacks of generalized ataxia that can be triggered by abrupt movements, emotional stress and fatigue. An Italian family has been identified where related members displayed continuous myokymia, episodes of ataxia, attacks characterized by myokymia only, and neuromyotonia. A novel missense mutation (F414C), in the C-terminal region of the K+ channel Kv1.1, was identified in the affected individuals. The mutant homotetrameric channels were non-functional in Xenopus laevis oocytes. In addition, heteromeric channels resulting from the co-expression of wild-type Kv1.1 and Kv1.1(F414C), or wild-type Kv1.2 and Kv1.1(F414C) subunits displayed reduced current amplitudes and altered gating properties. This indicates that the pathogenic effect of this KCNA1 mutation is likely to be related to the defective functional properties we have identified.
URI: https://www.um.edu.mt/library/oar//handle/123456789/28282
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