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Our database lists UCL academics who are happy to be contacted by the media in relation to their area of research and expertise. Many speak different languages.
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If you can't find the expert you are looking for, please contact Õ¬ÄÐÊÓƵ Media Relations on +44 (0)20 7679 9041 or find our full team’s contact details here

UCL academics can register for the database by following the instructions here

 

 

Miss Stephanie Efthymiou

Miss Stephanie Efthymiou

Research Fellow

Department : Department of Neuromuscular Diseases

Faculty : Faculty of Brain Sciences

Address : 812 EIGHTH FLOOR
INST NEUROLOGY - QUEEN SQUARE HOUSE
22 QUEEN SQUARE
LONDON
WC1N 3RX

Languages spoken fluently (other than English) : None specified

Expert's Details expand all sections Expand Allcollapse all sections Collapse All

collapse section Keywords:

collapse section Research Interests, Expertise and Groups:

I am a member of the Wellcome Trust Strategic Award for Synaptopathies as well as the International Centre for Genomic Medicine in Neuromuscular Disease. My work aims to identify the genetic basis of rare neurological disorders with a focus on neurodevelopmental disorders and epileptic encephalopathies in patients of ethnic background. Exome sequencing and optical genome mapping technologies with deep phenotyping, functional studies and animal modelling are important aspects of my research.

Research groups:

https://www.neurogenetics.co.uk/

Research publications:

https://scholar.google.com/citations?user=bFC5cdAAAAAJ&hl=en

Personal web address: https://www.linkedin.com/in/stephanie-efthymiou-52825b46/

collapse section Professional Affiliations and Appointments:

Associate Fellow of the Higher Education Academy, Associate Editor of Journal of Paediatric Neurology and Frontiers in Pediatric Neurology, Member of the Editorial Board of Paediatric Neurology and Frontiers in Neurology Epilepsy

collapse section Media Experience:

None Specified

Example news stories:

/genomic-medicine-neuromuscular-diseases/news/2023/aug/new-publication-icgnmds-stephanie-efthymiou-henry-houlden-and-others

/news/2023/feb/feature-why-rare-diseases-are-key-scientific-discovery

https://www.thesun.co.uk/health/25868803/nars1-rory-belle-foundation-rare-disease-ireland-health/

Example video clips:

None specified

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