UCL Queen Square Institute of Neurology


Stephanie Schorge

Stephanie Schorge

We are interested in how ion channels alter neurological disorders (such as epilepsy and ataxias) and also how neurological disorders alter ion channels. In particular we are interested in how alternative splicing in ion channels changes their behaviour, and how changes caused by splicing may lead to changes in the course and treatment of diseases.

Voltage-gated ion channels are often subject to extensive alternative splicing and the functional and neurological impact of changes in this splicing, as well as the factors regulating it are currently largely unknown. In the lab we regularly record from sodium, potassium, calcium and chloride channels.

A close collaboration with the MRC-funded Centre for Neuromuscular Diseases provides a regular stream of novel mutations identified in patients, as well as normally occurring splice variants. We have experimented with a variety of model systems, from oocytes to differentiated teratoma cells, and are constantly looking for ways to better reproduce the cellular environments that are relevant for the changes in ion channel behaviour.

Together with colleagues at the Experimental Epilepsy Group at the Institute of Neurology we have developed viral-mediated expression of ion channels, transporters and receptors as a novel strategy to treat focal epilepsy.

Role in the Synaptopathies Initiative

I aim to understand the consequences of genetic variability for ion channel assembly, trafficking and subcellular localisation in axons, dendrites and synapses, and to relate the consequences of altered function to the excitability of distinct classes of neurons.

More information on research in the Schorge lab