PLCB1, phospholipase C beta 1, 23236

N. diseases: 107; N. variants: 35
Disease: Tonic Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.010 Biomarker phenotype BEFREE Although phospholipase C-β 1 deficiency has not previously been reported in humans, the Plcb1 homozygote knockout mouse displays early-onset severe tonic seizures and growth retardation, thus recapitulating the human phenotype. 20833646 2010