Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE Germline loss-of-function mutations in DEPDC5 have emerged as a major cause of familial refractory focal epilepsies, with case reports of sudden unexpected death in epilepsy (SUDEP). 29708508 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 Biomarker disease BEFREE Our finding suggests that DEPDC5 is not only the most common gene for familial focal epilepsy but also could be a significant gene for sporadic focal epilepsy. 28170089 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE Recently, we identified mutations in DEPDC5 as a cause of familial focal epilepsy. 26505888 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 Biomarker disease BEFREE The penetrance in our family was low (three affected out of six mutation carriers), compared to families with either ion channel- or DEPDC5-associated familial nocturnal frontal lobe epilepsy. 26786403 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE Mutations in DEPDC5 have recently been identified in multiple cases of FFEVF as well as in a wide spectrum of other familial focal epilepsies. 24283814 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE This high frequency establishes DEPDC5 mutations as a common cause of familial focal epilepsies. 23542697 2013