developmental and epileptic encephalopathy 4

Summary
Synonym
  • DEE4
  • early infantile epileptic encephalopathy 4
Definition
A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.
Super Class
autosomal dominant disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0080436
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6812 STXBP1 syntaxin binding protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
20910 Stxbp1 syntaxin binding protein 1
The Human Phenotype Ontology
Displaying entries 21 - 30 of 53 in total
HPO ID HPO Term
HP:0001337 Tremor
HP:0001500 Broad finger
HP:0001508 Failure to thrive
HP:0001537 Umbilical hernia
HP:0001629 Ventricular septal defect
HP:0002069 Bilateral tonic-clonic seizure
HP:0002079 Hypoplasia of the corpus callosum
HP:0002121 Generalized non-motor (absence) seizure
HP:0002131 Episodic ataxia
HP:0002353 EEG abnormality
Displaying all 2 entries
Gene ID Gene Symbol Description
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q

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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