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Paroxysmal disorders of the nervous system
Paroxysmal disorders of the nervous system -- those disorders where the nervous system functions normally between attacks of symptoms -- appear to be due (in large part) to abnormalities of ion channel function. Conversely mutations in ion channels appear to be (in large part) linked to paroxysmal disorders. It is not yet clear why a nervous system with abnormal ion channels can for the most part function normally with intermittent attacks of symptoms. We are uniting clinical diagnosis, genetic analysis and biophysical characterization to study paroxysmal disorders from the level of patient diagnosis to molecular function. By progressing from patient to gene to protein, and identifying on an individual basis how a protein is affected by a mutation we can improve both the diagnosis of patients and develop insights for better and more individual treatments based on the changes induced by each mutation.
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