TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease BEFREE Mutations in TBC1D24 are described in patients with a spectrum of neurological diseases, including mild and severe epilepsies and complex syndromic phenotypes such as Deafness, Onycodystrophy, Osteodystrophy, Mental Retardation and Seizure (DOORS) syndrome. 30858606 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease BEFREE Epilepsy patients identified with TBC1D24 compound heterozygous mutations by next-generation sequencing (NGS) epilepsy panel or whole exome sequencing (WES) were enrolled. 31112829 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 Biomarker disease BEFREE TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. 31257402 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 Biomarker disease BEFREE The delineation of the phenotypic spectrum associated with mutations in ATP1A3, FOXG1, GNAO1, GRIN1, FRRS1L, and TBC1D24 is revealing an expanding genetic overlap between epileptic encephalopathies, developmental delay/intellectual disability, and hyperkinetic movement disorders,. 29086067 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 Biomarker disease BEFREE Furthermore, with an increasing number of pathogenic mutations leading to epilepsy and hearing loss being discovered in the TLDc protein TBC1D24, understanding the function of this family has important implications for a range of inherited neurological diseases. 28707022 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease BEFREE At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures. 27259978 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease BEFREE Mutations in TBC1D24 cause severe epilepsy and DOORS syndrome, but the molecular mechanisms underlying these pathologies are unresolved. 27669036 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 Biomarker disease BEFREE Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy. 27502353 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease BEFREE Given the phenotypic breadth observed, TBC1D24 mutation screening is indicated in a wide variety of epilepsies. 27281533 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease BEFREE More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various seizure types and severity, non-syndromic deafness, and DOORS syndrome. 25769375 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease BEFREE Previously, six recessive mutations in TBC1D24 were reported to cause seizures (hearing loss was not reported) ranging in severity from epilepsy with otherwise normal development to epileptic encephalopathy resulting in childhood death. 24387994 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease BEFREE TBC1D24 loss of function has been associated to idiopathic infantile myoclonic epilepsy, as well as to drug-resistant early-onset epilepsy with intellectual disability. 23526554 2013