PLCB1, phospholipase C beta 1, 23236

N. diseases: 107; N. variants: 35
Disease: X-linked infantile spasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.020 GeneticVariation disease BEFREE Mutations in the STXBP1 gene (MUNC18-1) were first described to cause Ohtahara syndrome (Early infantile epileptic encephalopathy, EIEE)(12-14) characterized by very early infantile epileptic encephalopathy with frequent tonic spasms and a suppression-burst pattern on electroencephalogram. 27184330 2016
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.020 GeneticVariation disease BEFREE We describe an infant presenting with severe intractable epilepsy (without a specific EIEE electroclinical syndrome diagnosis) and neurodevelopmental delay associated with compound heterozygous mutations in PLCB1. 24684524 2014