Condition: DEAFNESS, AUTOSOMAL DOMINANT 65
rs376712059 in
TBC1D24 gene and
DEAFNESS, AUTOSOMAL DOMINANT 65
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.
PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.
PMID 27281533 2016 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
PMID 24729547 2014 A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
PMID 24729539 2014 TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
PMID 27502353 2016 Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.