KEGG   VARIANT: 23236v1
Entry
23236v1                      Variant                               
Name
PLCB1 mutation
Type
Loss of function
Gene
PLCB1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform a [KO:K05858]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607120
Network
nt06528  Calcium signaling
Disease
H00606  Early infantile epileptic encephalopathy
Reference
PMID:26818157
  Authors
Schoonjans AS, Meuwissen M, Reyniers E, Kooy F, Ceulemans B
  Title
PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum.
  Journal
Eur J Paediatr Neurol 20:474-9 (2016)
DOI:10.1016/j.ejpn.2016.01.002
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