This website provides information on patients with mutations in the TBC1D24 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the TBC1D24 gene is a multisystem disorder characterized by: seizures (myoclonic, tonic-clonic seizures, focal epilepsy, epileptic encephalopathy), deafness, onychodystrophy, osteodystrophy, developmental delay/intellectual disability. Not all individuals with a mutation in the TBC1D24 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TBC1D24 gene.
Philippe Campeau, MD, Universite de Montreal, Montreal Canada, firstname.lastname@example.org
Sanjay M Sisodiya, MD, UCL Institute of Neurlology, London, UK, email@example.com