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Neurological channelopathies: delineating the genetic basis of neuronal ion channel disorders using next-generation sequencing technologies.
Channelopathies are widespread in neurology, genetically heterogeneous and the identification of disease genes instantly leads to therapeutic implications. Next generation DNA sequencing platforms have been widely available since 2008 and have led to a dramatic reduction in the cost and speed of DNA sequencing. This technology has been used to enable the development of whole genome and exome sequencing as both a research and diagnostic tool however significant challenges remain with the application of both these techniques. The same technology can be used to enable rapid sequencing of smaller amplicons that is well suited to support current research and diagnostic sequencing requirements. This allows multiple genes to be sequenced rapidly and accurately and at significantly reduced cost compared to Sanger sequencing. We have taken this approach to develop: 1. A targeted screening panel for multiple genes that are known to cause episodic ataxia and other paroxysmal neurological disorders such as episodic ataxias, familial hemiplegic migraine, alternating hemiplegia of childhood, paroxysmal kinesigenic and non-kinesigenic dyskinesias, paroxysmal exercise-induced dyskinesia and GLUT deficiencies for research and eventually diagnostic purposes 2. Linkage and exome screening of families 3. Functional studies a collaborative bank of fibroblasts
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