developmental and epileptic encephalopathy 24

Summary
Synonym
  • DEE24
  • early infantile epileptic encephalopathy 24
Definition
A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12.
Super Class
autosomal dominant disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0080429
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
348980 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
15165 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
84390 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
The Human Phenotype Ontology
Displaying entries 41 - 48 of 48 in total
HPO ID HPO Term
HP:0007018 Attention deficit hyperactivity disorder
HP:0002421 Poor head control
HP:0010844 EEG with multifocal slow activity
HP:0012447 Abnormal myelination
HP:0002521 Hypsarrhythmia
HP:0100660 Dyskinesia
HP:0004322 Short stature
HP:0011968 Feeding difficulties
Displaying all 5 entries
Gene ID Gene Symbol Description
1759 DNM1 dynamin 1
523 ATP6V1A ATPase H+ transporting V1 subunit A
781 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
8867 SYNJ1 synaptojanin 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024