familial adult myoclonic epilepsy 5

Summary
Synonym
  • FAME5
  • FCMTE5
  • familial cortical myoclonic tremor and epilepsy 5
Definition
A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1.
Super Class
autosomal recessive disease familial adult myoclonic epilepsy
Disease Ontology
DOID:0111691
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6900 CNTN2 contactin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
21367 Cntn2 contactin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
25356 Cntn2 contactin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
40553 Cont Contactin
Displaying 1 entry
Gene ID Gene Symbol Description Source
173828 rig-6 Contactin rig-6
The Human Phenotype Ontology
Displaying entries 1 - 10 of 15 in total
HPO ID HPO Term
HP:0002315 Headache
HP:0100576 Amaurosis fugax
HP:0001336 Myoclonus
HP:0002378 Hand tremor
HP:0001249 Intellectual disability
HP:0002353 EEG abnormality
HP:0007359 Focal-onset seizure
HP:0002197 Generalized-onset seizure
HP:0002069 Bilateral tonic-clonic seizure
HP:0011182 Interictal epileptiform activity
Displaying 1 entry
Gene ID Gene Symbol Description
6900 CNTN2 contactin 2

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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