TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Epilepsies, Partial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.040 GeneticVariation disease BEFREE We report four patients with novel variants of TBC1D24 demonstrating drug-resistant focal epilepsy, developmental delays, and head growth deceleration. 27502353 2016
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.040 GeneticVariation disease BEFREE TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. 23517570 2013
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.040 GeneticVariation disease BEFREE Recessive TBC1D24 gene mutations have been described in two families: an Italian family afflicted with familial infantile myoclonic epilepsy, and an Arab family with focal epilepsy and intellectual disability syndrome. 23343562 2013
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.040 GeneticVariation disease BEFREE A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. 20797691 2010