Tomlinson, SE;
Rajakulendran, S;
Tan, SV;
Graves, TD;
Bamiou, DE;
Labrum, RW;
Burke, D;
... Hanna, MG; + view all
Tomlinson, SE;
Rajakulendran, S;
Tan, SV;
Graves, TD;
Bamiou, DE;
Labrum, RW;
Burke, D;
Sue, CM;
Giunti, P;
Schorge, S;
Kullmann, DM;
Hanna, MG;
- view fewer
(2013)
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
J Neurol Neurosurg Psychiatry
, 84
(10)
1107 - 1112.
10.1136/jnnp-2012-304131.
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Abstract
Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction and persistent neuromyotonia. This paper describes four previously unreported families with EA1, with the aim of understanding the phenotypic spectrum associated with different mutations.
| Type: |
Article
|
| Title: |
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. |
| Location: |
England |
| Open access status: |
An open access version is available from UCL Discovery |
| DOI: |
10.1136/jnnp-2012-304131 |
| Publisher version: |
http://dx.doi.org/10.1136/jnnp-2012-304131 |
| Language: |
English |
| Additional information: |
This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
| Keywords: |
Cerebellar Ataxia, Epilepsy, Neurogenetics, Neuromuscular, Neurophysiol, Clinical, Adolescent, Ataxia, Cell Line, Transformed, Cerebellum, Chromosomes, Human, Pair 12, DNA Mutational Analysis, Disability Evaluation, Electromyography, Female, Heterozygote Detection, Humans, In Vitro Techniques, Isaacs Syndrome, Kv1.1 Potassium Channel, Male, Motor Neurons, Myokymia, Pedigree, Phenotype, Sequence Analysis, DNA, Shaker Superfamily of Potassium Channels, Transfection |
| UCL classification: |
UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > The Ear Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Neuro, Physiology and Pharmacology |
| URI: |
https://discovery.ucl.ac.uk/id/eprint/1384547 |
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