Condition: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)


rs398122965 in TBC1D24 gene and Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 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 27502353 2016 Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.