My group has a long standing clinical and genetic research interest in neurological channelopathies and in mitochondrial neuromuscular diseases. We are also interested in mechanisms of muscle degeneration in acquired muscle disease particularly Inclusion Body Myosotis.
My research has focused on improved understanding of the molecular genetics basis and molecular mechanisms of neurological diseases caused by mitochondrial dysfunction and by ion channel dysfunction. Many of these diseases particularly affect the neuromuscular system and my clinical specialist interest has focused on developing better services for patients with neuromuscular neurological diseases.
Many important neurological diseases are episodic causing patients to experience attacks of unpredictable severe neurological dysfunction separated by periods of apparent normality. The commonest episodic neurological disorders are epilepsy and migraine but their precise molecular pathophysiology is an important unsolved neuroscience challenge. In addition, there are many severe disabling disorders of episodic muscle dysfunction such as episodic total muscle periodic paralysis and intermittent and severe disabling muscle myotonic stiffness.
Role in the Synaptopathies Initiative
I have assembled large cohorts of families with episodic ataxia and muscle channelopathies, and aim to identify new genetic disorders in mutation-negative families and individuals through a combination of detailed phenotyping, including clinical neurophysiology and molecular genetics.