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Epilepsy, familial temporal lobe, 1

Synonyms
Autosomal Dominant Partial Epilepsy with Auditory Features

Summary

Excerpted from the GeneReview: Autosomal Dominant Epilepsy with Auditory Features
Autosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing; less common forms are distortions (e.g., volume changes) or complex sounds (e.g., specific songs or voices). Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion. Less commonly, other ictal symptoms may occur, including sensory symptoms (visual, olfactory, vertiginous, or cephalic) or motor, psychic, and autonomic symptoms. Most affected individuals have focal to bilateral tonic-clonic seizures, usually accompanied by "focal aware" and "focal impaired-awareness" seizures, with auditory symptoms as a major focal aware seizure manifestation. Some persons have seizures precipitated by sounds such as a ringing telephone. Age at onset is usually in adolescence or early adulthood (range: age 4-50 years). The clinical course of ADEAF is benign. Seizures are usually well controlled after initiation of medical therapy.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Roberto Michelucci
Carlo Nobile
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Available tests

39 tests are in the database for this condition.

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Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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    Summary: microtubule associated monooxygenase, calponin and LIM domain containing 1

  • Also known as: ETL7, LIS2, PRO1598, RL, RELN
    Summary: reelin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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