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Metadata
ID DOID:0060748
Name familial temporal lobe epilepsy 1
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/10851389, https://www.ncbi.nlm.nih.gov/pubmed/12205652, https://www.ncbi.nlm.nih.gov/pubmed/15079010
Xrefs

OMIM:600512

ORDO:101046

Subsets

DO_rare_slim

Synonyms

ETL1 [EXACT]

partial epilepsy with auditory features [EXACT]

Parent Relationships

is_a temporal lobe epilepsy

is_a autosomal dominant disease

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