" /> Epilepsy, familial temporal lobe, 1 - CISMeF





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;

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03/05/2025


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