familial adult myoclonic epilepsy 6

Summary
Synonym
  • BAFME6
  • FAME6
  • FCMTE6
  • benign adult familial myoclonic epilepsy 6
  • familial cortical myoclonic tremor and epilepsy 6
Definition
A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1.
Super Class
autosomal dominant disease familial adult myoclonic epilepsy
Disease Ontology
DOID:0111696
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
27327 TNRC6A trinucleotide repeat containing adaptor 6A
Displaying 1 entry
Gene ID Gene Symbol Description Source
233833 Tnrc6a trinucleotide repeat containing 6a

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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