familial temporal lobe epilepsy 7

Summary
Synonym
  • ETL7
Definition
A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22.
Super Class
autosomal dominant disease temporal lobe epilepsy
Disease Ontology
DOID:0060751
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5649 RELN reelin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P78509 Reelin

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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: April 7, 2025