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Diseases

Genetic and Rare Diseases Information Center (GARD)

Autosomal dominant partial epilepsy with auditory features


Other Names for this Disease
  • ADLTE
  • ADPEAF
  • Autosomal dominant lateral temporal lobe epilepsy
  • ETL1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive aphasia (inability to understand written or spoken words). Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, vertigo, or other symptoms affecting the senses. Signs and symptoms of the condition generally begin in adolescence or early adulthood.[1][2][3] ADPEAF is caused by changes (mutations) in the LGI1 or RELN gene and is inherited in an autosomal dominant manner. The seizures associated with ADPEAF are typically well controlled with medications that are used to treat epilepsy (called antiepileptic drugs).[1]
Last updated: 3/31/2016

References

  1. Ruth Ottman, PhD. Autosomal Dominant Partial Epilepsy with Auditory Features. GeneReviews. August 2015; http://www.ncbi.nlm.nih.gov/books/NBK1537.
  2. Autosomal dominant partial epilepsy with auditory features. Genetics Home Reference. July 2008; https://ghr.nlm.nih.gov/condition/autosomal-dominant-partial-epilepsy-with-auditory-features.
  3. EPILEPSY, FAMILIAL TEMPORAL LOBE, 1. OMIM. July 2015; http://www.omim.org/entry/600512.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Autosomal dominant partial epilepsy with auditory features. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal dominant partial epilepsy with auditory features. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ADLTE
  • ADPEAF
  • Autosomal dominant lateral temporal lobe epilepsy
  • ETL1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.