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.