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
External Links
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
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NQ66 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 34 in total
HPO ID HPO Term
HP:0002069 Bilateral tonic-clonic seizure
HP:0002376 Developmental regression
HP:0002384 Focal impaired awareness seizure
HP:0002521 Hypsarrhythmia
HP:0002540 Inability to walk
HP:0002650 Scoliosis
HP:0004302 Functional motor deficit
HP:0006813 Focal hemiclonic seizure
HP:0007334 Bilateral tonic-clonic seizure with focal onset
HP:0010821 Focal emotional seizure with laughing
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: August 19, 2024