Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16


rs376712059 in TBC1D24 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

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 27541164 2016 Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

PMID 23526554 2013 Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.