Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations


The gene TBC1D24, TBC1 domain family member 24 (OMIM 613577), encodes a protein with an N-terminal Tre2–Bub2–Cdc16 (TBC) domain linked to a TBC–LysM (TLDc) domain [1]. The TBC domain is involved in vesicle trafficking in brain and somatic development, whereas the function of the TLDc domain is largely unknown [1,2]. In 2010, Falace et al. first mapped the familial infantile myoclonic epilepsy (FIME) locus on chromosome 16p13.3 by linkage analysis. Systematic mutational screening of 34 genes in two affected family members by Sanger sequencing identified two compound heterozygous missense mutations in TBC1D24 [3].


Leave A Reply