DISEASES

Disease-gene associations mined from literature

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Human genes for familial temporal lobe epilepsy 1

Familial temporal lobe epilepsy 1 [DOID:0060748]

A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24.

Synonyms:  familial temporal lobe epilepsy 1,  DOID:0060748,  hereditary temporal lobe epilepsy 1,  ETL1,  partial epilepsy with auditory features ...

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.