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