Condition: Epilepsy, Myoclonic, Infantile


rs267607103 in TBC1D24 gene and Epilepsy, Myoclonic, Infantile PMID 20727515 2010 TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

PMID 20797691 2010 A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.