TBC1D24 – what’s new in 2016?

The story of TBC1D24. As with many epilepsy genes, the TBC1D24 story increases in complexity over time. Initially described to be associated with autosomal recessive familial infantile myoclonic epilepsy by Falace and colleagues and with autosomal recessive focal epilepsy by Corbett and colleagues in 2010, pathogenic variants in TBC1D24 have since been identified as a major cause of DOORS syndrome and have also been identified in individuals with familial malignant migrating partial seizures of infancy, progressive myoclonus epilepsy, early-onset epileptic encephalopathy, and autosomal dominant and autosomal recessive non-syndromic hearing loss. However, little is known about a potential genotype-phenotype correlation of TBC1D24-related disorders, as well as the underlying mechanism. Keep reading to learn more about recent discoveries related to TBC1D24. Continue reading

TBC1D24 – this is what you need to know in 2015

The TBC1D24 story. Mutations in TBC1D24 were found initially in two recessive families with different types of epilepsy in 2010. This was followed by the identification of mutations in another recessive epilepsy family in 2013, and then by the identification of 9 families with mutations and DOORS syndrome (Deafness, Onycho-Osteodystrophy, mental Retardation and Seizures). Surprisingly, TBC1D24 mutations were then also identified in families with autosomal dominant or recessive non-syndromic deafness without epilepsy. Continue reading