Our ongoing study is open to all patients with TBC1D24 variants for whom clinical information is available.
We aim to better describe the spectrum of clinical manifestations associated with pathogenic variants of TBC1D24, especially the neurological phenotype including but not limited to seizure types, movement disorders, and effectiveness of anticonvulsive treatment.
Secondly, we are seeking to elucidate the role of TBC1D24 variants in the pathomechanism of the phenotype and to explore possible genotype-phenotype correlations.