Molecular mechanisms of monogenic epilepsies and related movement disorders
Lead Research Organisation:
University College London
Department Name: UNLISTED
Abstract
Abstracts are not currently available in GtR for all funded research. This is normally because the abstract was not required at the time of proposal submission, but may be because it included sensitive information such as personal details.
Publications
Anagnostou ME
(2016)
Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.
in Epilepsia
Begum R
(2016)
Action potential broadening in a presynaptic channelopathy.
in Nature communications
Cavalleri G
(2007)
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
in The Lancet Neurology
Cavalleri GL
(2007)
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy.
in Epilepsia
CAVALLERI, GL
(2007)
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
in LANCET NEUROLOGY
Crisp SJ
(2016)
Autoimmune synaptopathies.
in Nature reviews. Neuroscience
Ermolyuk YS
(2013)
Differential triggering of spontaneous glutamate release by P/Q-, N- and R-type Ca2+ channels.
in Nature neuroscience
Fialho D
(2007)
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
in Brain : a journal of neurology
Fialho D
(2008)
Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita.
in Neuromuscular disorders : NMD
Fletcher EV
(2011)
Alternative splicing modulates inactivation of type 1 voltage-gated sodium channels by toggling an amino acid in the first S3-S4 linker.
in The Journal of biological chemistry
| Description | Action Research training fellowship for TG |
| Amount | £150,000 (GBP) |
| Organisation | Action Medical Research |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2007 |
| End | 07/2008 |
| Description | Engineered Potassium Channel gene therapy for epilepsy |
| Amount | £2,200,000 (GBP) |
| Funding ID | MR/R015333/1 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2018 |
| End | 04/2022 |
| Description | Innovator Award: Glutamate-gated chloride channel treatment of epilepsy |
| Amount | £456,266 (GBP) |
| Funding ID | 209807/Z/17/Z |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 10/2018 |
| End | 09/2020 |
| Description | MRC Centre Grant: Centre for Neuromuscular Disease |
| Amount | £3,000,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 10/2008 |
| End | 09/2012 |
| Description | MRC grant: Lentiviral potassium channel expression to treat focal neocortical epilepsy |
| Amount | £1,008,392 (GBP) |
| Funding ID | G0802158 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 09/2009 |
| End | 08/2012 |
| Description | Wellcome Trust training fellowship for SR |
| Amount | £150,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2007 |
| End | 07/2009 |
| Description | Wellcome trust grant: Virally-delivered shRNA for focal epilepsy |
| Amount | £242,321 (GBP) |
| Funding ID | 086882 |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2009 |
| End | 07/2012 |
| Title | Clones, viral constructs |
| Description | Several cDNAs were generated |
| Type Of Material | Database/Collection of Data/Biological Samples |
| Year Produced | 2008 |
| Provided To Others? | Yes |
| Impact | The viral vectors have allowed manipulation of neuronal activity |
| Description | Creation of MRC Centre for Neuromuscular Diseases |
| Organisation | University College London |
| Department | Institute of Neurology |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | I am on the steering committee and help to co-ordinate the seminar programme and the use of animals. My laboratory offers rotations to students on the PhD programme. |
| Collaborator Contribution | The MRC Centre for Neuromuscular Diseases has capitalised on the channelopathy research that was sponsored by the grant, and has facilitated interactions across a wide community of researchers across UCL and the University of Newcastle |
| Impact | Several papers have resulted |
| Start Year | 2008 |
| Title | Sequencing DNA analysis for CACNA1A, CLCN1 mutations |
| Description | Sequencing analysis is now offered for mutations through the channelopathy service at the National Hospital/UCL Institute of Neurology |
| Type | Diagnostic Tool - Non-Imaging |
| Current Stage Of Development | Refinement. Clinical |
| Year Development Stage Completed | 2008 |
| Development Status | Under active development/distribution |
| Impact | Improved diagnosis of patients with channelopathies |
| Description | School visits |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Primary Audience | Schools |
| Results and Impact | Pupils at schools sponsored by the Worshipful Company of Pewterers participated in several Science Days run by one of the researchers funded by the grant. Repeated invitations, nomination for public engagement awards |
| Year(s) Of Engagement Activity | 2006,2007,2008,2009 |