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https://www.um.edu.mt/library/oar/handle/123456789/29189| Title: | Functional characterisation of a novel mutation causing episodic ataxia type 1 occurring in the KCNA1 gene |
| Authors: | Imbrici, Paola Gualandi, Francesca D'Adamo, Maria Cristina Cudia, Paola De Grandis, Domenico Ferlini, Alessandra Pessia, Mauro |
| Keywords: | Ataxia |
| Issue Date: | 2007 |
| Publisher: | Elsevier |
| Citation: | Imbrici, P., Gualandi, F., D’Adamo, M., Cudia, P., De Grandis, D., Ferlini, A., & Pessia, M. (2007). Functional characterisation of a novel mutation causing episodic ataxia type 1 occurring in the KCNA1 gene. Neuromuscular Disorders, 17(9-10), GP 18.09, 892-893. |
| Abstract: | Episodic ataxia type 1 (EA1, MIM 160120) is a rare, autosomal dominant, neurological disease which occurs during childhood and persists through the whole life of affected patients. The hallmark of the disease is continuous myokymia and attacks of generalized ataxia. Several point mutations have been found in heterozygosis in the KCNA1 gene, encoding for the voltage-gated potassium channel gene KCNA1 (Kv1.1 subunit). |
| URI: | https://www.um.edu.mt/library/oar//handle/123456789/29189 |
| Appears in Collections: | Scholarly Works - FacM&SPB |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Functional_characterisation_of_a_novel_mutation_causing_episodic_ataxia_type_1_2007.pdf Restricted Access | 65.38 kB | Adobe PDF | View/Open Request a copy |
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