CORDIS Project
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This research project investigates the mechanisms behind episodic ataxias, particularly focusing on the impact of mutations in the Kv1.1 potassium channel on cerebellar function. By employing advanced techniques, it aims to understand synaptic deficits and explore potential small molecule therapies for improving coordi…
The episodic ataxias are a group of hereditary conditions with recurring paroxysms of cerebellar dysfunction.
They are rare; however they share important similarities to other more prevalent paroxysmal disorders such as migraine and epilepsy.
The prototypic cerebellar cortex paroxysmal disorder is Episodic ataxia 1 (EA1), which is linked to dominantly inherited missense mutations in the Kv1.1 potassium channel subunit.
Work from an animal model harbouring a human EA1 mutation reveals altered syn…
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