Condition: DEAFNESS, AUTOSOMAL RECESSIVE 86


rs199700840 in TBC1D24 gene and DEAFNESS, AUTOSOMAL RECESSIVE 86 PMID 24387994 2014 Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

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.