Epilepsy 

What is Epilepsy?

Refractory epilepsy is a common, severe neurological disorder for which there are limited treatment options. Fewer than 10% of people with refractory epilepsy are suitable for curative resective brain surgery, predominantly because of proximity of the epileptic focus to eloquent cortex (regions involved with critical functions).

We have harnessed decades of clinical genetic and neurophysiological research to create a portfolio of gene therapy approaches designed to ‘calm down’ the cortical networks that drive seizures. These approaches offer the potential to restore epileptic tissue to normal physiological activity, targeting only the critical area of the brain involved in the triggering of epilepsy. To increase the translational potential of our therapies, we have established appropriate chronic models of epilepsy, EEG analysis, and blinded, randomised pre-clinical trials of efficacy.

We are using a range of revolutionary approaches that include the utilisation of new engineered genes or the manipulation and modification of genes already present in the patients` genome. As a group we aim to conduct our first in-human clinical trial for epilepsy gene therapy in the next 3 years.

Our Latest Publications on Epilepsy 

Epileptic Phenotypes Associated with SNAREs and Related Synaptic Vesicle Exocytosis Machinery

Cali et al, 2022

https://pubmed.ncbi.nlm.nih.gov/35095745/

 

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Rinaldi et al, 2022

https://pubmed.ncbi.nlm.nih.gov/34731330/

 

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment and ataxia

Yie Yap et al, 2021

https://pubmed.ncbi.nlm.nih.gov/34800363/

 

Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.

Maroofian et al, 2021

https://pubmed.ncbi.nlm.nih.gov/34557665/

 

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function

Scala et al, 2021

https://pubmed.ncbi.nlm.nih.gov/33901312/

 

De Novo and Bi-allelic Pathogenic Variants in NARS1 cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Manole et al, 2020

https://pubmed.ncbi.nlm.nih.gov/32738225/