Details of Disease

General Information of Disease (ID: DISQ75RM)

Disease Name Familial temporal lobe epilepsy 8
Synonyms epilepsy, familial temporal lobe, 8; ETL8; epilepsy, familial temporal lobe, type 8; familial temporal lobe epilepsy type 8
Definition
A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.
Disease Hierarchy
DISNOPXX: Temporal lobe epilepsy
DISQ75RM: Familial temporal lobe epilepsy 8
Disease Identifiers
MONDO ID
MONDO_0014650
UMLS CUI
C4225318
OMIM ID
616461
MedGen ID
909158

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GAL TTXZAJ5 Limited Autosomal dominant [1]
GAL TTXZAJ5 Limited Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GAL OTB3VPTO Limited Autosomal dominant [1]
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References

1 Galanin and epilepsy. Cell Mol Life Sci. 2008 Jun;65(12):1864-71. doi: 10.1007/s00018-008-8161-8.
2 Galanin pathogenic mutations in temporal lobe epilepsy.Hum Mol Genet. 2015 Jun 1;24(11):3082-91. doi: 10.1093/hmg/ddv060. Epub 2015 Feb 17.