Details of Disease | DrugMAP

General Information of Disease (ID: DISSDHKG)

Disease Name	Familial temporal lobe epilepsy 7
Synonyms	epilepsy, familial temporal lobe, 7; epilepsy, familial temporal lobe, type 7; familial temporal lobe epilepsy type 7; 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.
Disease Hierarchy	DISNOPXX: Temporal lobe epilepsy DISSDHKG: Familial temporal lobe epilepsy 7
Disease Identifiers	MONDO ID MONDO_0014639 UMLS CUI C4225327 OMIM ID 616436 MedGen ID 907609

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RELN	OTLKMW1O	Strong	Autosomal dominant	[1]
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References

1	Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246.