Preferred Label : Epilepsy, familial temporal lobe, 1;
Symbol : ETL1;
CISMeF acronym : ADLTE; ETL1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Epilepsy, lateral temporal lobe, autosomal dominant; Epilepsy, partial, with auditory features; ADLTE; ADPEAF;
Description : Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe
epilepsy characterized by partial seizures originating from the temporal lobe. Seizures
are usually accompanied by sensory symptoms, most often auditory in nature (summary
by Winawer et al., 2000). - Genetic Heterogeneity of Temporal Lobe Epilepsy See also
ETL2 (608096), which maps to chromosome 12q; ETL3 (61163), which maps to chromosome
4q; ETL4 (611631), which maps to chromosome 9q; and ETL5 (614417), caused by mutation
in the CPA6 gene (609562) on chromosome 8q13.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the glioma-inactivated leucine-rich 1 gene (LGI1, 604619.0001);
Prefixed ID : #600512;
Origin ID : 600512;
UMLS CUI : C4551957;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)