progressive myoclonus epilepsy 8

Summary
Synonym
  • EMP8
  • PME type 8
  • progressive myoclonic epilepsy due to CERS1 deficiency
  • progressive myoclonus epilepsy type 8
Definition
A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.
Super Class
autosomal recessive disease progressive myoclonus epilepsy
Disease Ontology
DOID:0111451
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10715 CERS1 ceramide synthase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
853861 LAC1 sphingosine N-acyltransferase LAC1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 20 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000639 Nystagmus
HP:0000726 Dementia
HP:0000750 Delayed speech and language development
HP:0001249 Intellectual disability
HP:0001260 Dysarthria
HP:0001263 Global developmental delay
HP:0001266 Choreoathetosis
HP:0001272 Cerebellar atrophy
HP:0001288 Gait disturbance
Displaying 1 entry
Gene ID Gene Symbol Description
10715 CERS1 ceramide synthase 1

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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: February 17, 2025