progressive myoclonus epilepsy 1A

Summary
Synonym
  • EPM1A
Definition
An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.
Super Class
Unverricht-Lundborg syndrome autosomal recessive disease
External Links
Disease Ontology
DOID:0111452
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
427 ASAH1 N-acylsphingosine amidohydrolase 1
4758 NEU1 neuraminidase 1
5211 PFKL phosphofructokinase, liver type
5621 PRNP prion protein (Kanno blood group)
7957 EPM2A EPM2A glucan phosphatase, laforin
54732 TMED9 transmembrane p24 trafficking protein 9

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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


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Last updated: August 19, 2024