- Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivoSusan E Tomlinson
Institute of Clinical Neurosciences, Royal Prince Alfred Hospital and University of Sydney, Sydney, Australia
Clin Neurophysiol 120:1768-76. 2009..The clinical, genetic and electrophysiological features of EA1 and EA2 are outlined, and a protocol for the assessment of these patients is proposed...
- In vivo assessment of HCN channel current (I(h)) in human motor axonsSusan Tomlinson
Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
Muscle Nerve 41:247-56. 2010..This study demonstrates a reliable method for in vivo assessment of I(h,) and also serves to document the normal variability in nerve excitability properties within subjects...
- Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1Susan E Tomlinson
Institute of Neurology, University College London, London WC1N 3BG, UK
Brain 133:3530-40. 2010..1 dysfunction in patients with episodic ataxia type 1. The simple 15 min test may be useful in diagnosis, since it can differentiate patients with episodic ataxia type 1 from normal controls with high sensitivity and specificity...
- In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remissionSusan E Tomlinson
Department of Neurology, Royal Prince Alfred Hospital, University of Sydney, NSW, Australia
Brain 135:3144-52. 2012..We conclude that subclinical dysfunction of K(v)7.2 in peripheral axons can be reliably detected non-invasively in adulthood. Related alterations in neuronal excitability may contribute to epilepsy associated with KCNQ2 mutations...
- HCN Channels: Function and clinical implicationsDavid Burke
Neurology 81:513-4. 2013..In neuropathic pain, the situation is less certain because the action potentials of small nociceptive afferents can only be characterized with microneurography. ..