developmental and epileptic encephalopathy 12

Summary
Synonym
  • DEE12
  • early infantile epileptic encephalopathy 12
Definition
A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
Super Class
autosomal recessive disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0080459
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23236 PLCB1 phospholipase C beta 1
The Human Phenotype Ontology
Displaying entries 31 - 34 of 34 in total
HPO ID HPO Term
HP:0008936 Axial hypotonia
HP:0200134 Epileptic encephalopathy
HP:0001347 Hyperreflexia
HP:0003593 Infantile onset
Displaying all 3 entries
Gene ID Gene Symbol Description
23236 PLCB1 phospholipase C beta 1
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024