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DC Field | Value | Language |
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dc.contributor.author | D'Adamo, Maria Cristina | - |
dc.contributor.author | Di Giovanni, Giuseppe | - |
dc.contributor.author | Pessia, Mauro | - |
dc.date.accessioned | 2017-10-11T16:53:20Z | - |
dc.date.available | 2017-10-11T16:53:20Z | - |
dc.date.issued | 2015 | - |
dc.identifier.citation | D’Adamo, M. C., Di Giovanni, G., & Pessia, M. (2015). Animal models of episodic ataxia type 1 (EA1). In M. S. LeDoux (Eds.), Movement disorders (pp. 797-807). San Diego: Academic Press. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/22521 | - |
dc.description.abstract | Episodic ataxia type 1 (EA1) is an autosomal dominant neurological disorder characterized by myokymia and attacks of ataxic gait often precipitated by stress. Several genetic mutations have been identified in the Shaker-like K+ channel Kv1.1 (KCNA1) of individuals with EA1. K+ channels are membrane proteins that allow the selected and concerted movement of K+ across a cell membrane that is otherwise relatively impermeable. Voltage-gated K+ channels shorten the duration of action potentials and control the excitability of central and peripheral neurons. EA1 is classified among ion channel diseases known as channelopathies (CPs). To date, a large group of CPs has been identified and new ones are continuously discovered. They result in a very diverse class of diseases ranging from ataxia, epilepsy, migraine, and psychiatric disorders to dysfunction of the skeletal muscle, kidney, and endocrinology system. Certainly, research using animal models of EA1 is providing important knowledge concerning the signaling pathways and circuits involved in this disease and in finding novel pharmacological interventions to ameliorate the symptoms. More broadly, investigations of CPs at the molecular and whole-animal levels will help further our understanding of the functional properties of ion channels and, eventually, the physiological workings of the human body. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | Academic Press | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Electromyography | en_GB |
dc.subject | Potassium channels | en_GB |
dc.subject | Spinocerebellar degenerations | en_GB |
dc.title | Animal models of episodic ataxia type 1 (EA1) | en_GB |
dc.type | bookPart | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.1016/B978-0-12-405195-9.00051-2 | - |
Appears in Collections: | Scholarly Works - FacM&SPB |
Files in This Item:
File | Description | Size | Format | |
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D`Amato et al, 2014 Animal Models of Episodic Ataxia.pdf | 1.14 MB | Adobe PDF | View/Open |
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