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Genetics Home Reference: your guide to understanding genetic conditions
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Autosomal dominant partial epilepsy with auditory features

(often shortened to ADPEAF)
Reviewed July 2008

What is ADPEAF?

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing. Some people experience more complex sounds during a seizure, such as specific voices or music, or changes in the volume of sounds. Some people with ADPEAF suddenly become unable to understand language before losing consciousness during a seizure. This inability to understand speech is known as receptive aphasia. Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, a feeling of dizziness or spinning (vertigo), or other symptoms affecting the senses.

Seizures associated with ADPEAF usually begin in adolescence or young adulthood. They may be triggered by specific sounds, such as a ringing telephone or speech, but in most cases the seizures do not have any recognized triggers. In most affected people, seizures are infrequent and effectively controlled with medication.

Most people with ADPEAF have seizures described as simple partial seizures, which do not cause a loss of consciousness. These seizures are thought to begin in a part of the brain called the lateral temporal lobe. In some people, seizure activity may spread from the lateral temporal lobe to affect other regions of the brain. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.

How common is ADPEAF?

This condition appears to be uncommon, although its prevalence is unknown.

What genes are related to ADPEAF?

Mutations in the LGI1 gene cause ADPEAF. This gene provides instructions for making a protein called Lgi1 or epitempin, which is found primarily in nerve cells (neurons) in the brain. Although researchers have proposed several functions for this protein, its precise role in the brain remains uncertain.

Mutations in the LGI1 gene likely disrupt the function of epitempin. It is unclear how the altered protein leads to seizure activity in the brain.

LGI1 mutations have been identified in about half of all families diagnosed with ADPEAF. In the remaining families, the cause of the condition is unknown. Researchers are searching for other genetic changes that may underlie the condition.

Related Gene(s)

Changes in this gene are associated with autosomal dominant partial epilepsy with auditory features.

  • LGI1

How do people inherit ADPEAF?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered LGI1 gene in each cell is sufficient to raise the risk of developing epilepsy. About two-thirds of people who inherit a mutation in this gene will develop seizures. In most cases, an affected person has one affected parent and other relatives with the condition.

Where can I find information about diagnosis or management of ADPEAF?

These resources address the diagnosis or management of ADPEAF and may include treatment providers.

  • Gene Review: Autosomal Dominant Partial Epilepsy with Auditory Features (http://www.ncbi.nlm.nih.gov/books/NBK1537)
  • Genetic Testing Registry: Epilepsy, lateral temporal lobe, autosomal dominant (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1838062)
  • MedlinePlus Encyclopedia: Partial (Focal) Seizure (http://www.nlm.nih.gov/medlineplus/ency/article/000697.htm)
  • MedlinePlus Encyclopedia: Seizures (http://www.nlm.nih.gov/medlineplus/ency/article/003200.htm)

You might also find information on the diagnosis or management of ADPEAF in Educational resources (http://www.ghr.nlm.nih.gov/condition/autosomal-dominant-partial-epilepsy-with-auditory-features/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/autosomal-dominant-partial-epilepsy-with-auditory-features/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about ADPEAF?

You may find the following resources about ADPEAF helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for ADPEAF?

  • ADLTE
  • Autosomal dominant lateral temporal lobe epilepsy
  • Epilepsy, partial, with auditory features
  • ETL1

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about ADPEAF?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding ADPEAF?

auditory ; aura ; autosomal ; autosomal dominant ; cell ; epilepsy ; gene ; hallucinations ; inherit ; inherited ; mutation ; prevalence ; protein ; seizure ; vertigo

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Brodtkorb E, Gu W, Nakken KO, Fischer C, Steinlein OK. Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. Epilepsia. 2002 Mar;43(3):228-35. (http://www.ncbi.nlm.nih.gov/pubmed/11906506?dopt=Abstract)
  • Gene Review: Autosomal Dominant Partial Epilepsy with Auditory Features (http://www.ncbi.nlm.nih.gov/books/NBK1537)
  • Michelucci R, Poza JJ, Sofia V, de Feo MR, Binelli S, Bisulli F, Scudellaro E, Simionati B, Zimbello R, D'Orsi G, Passarelli D, Avoni P, Avanzini G, Tinuper P, Biondi R, Valle G, Mautner VF, Stephani U, Tassinari CA, Moschonas NK, Siebert R, Lopez de Munain A, Perez-Tur J, Nobile C. Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia. 2003 Oct;44(10):1289-97. (http://www.ncbi.nlm.nih.gov/pubmed/14510822?dopt=Abstract)
  • Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology. 2004 Apr 13;62(7):1120-6. (http://www.ncbi.nlm.nih.gov/pubmed/15079011?dopt=Abstract)
  • Winawer MR, Martinelli Boneschi F, Barker-Cummings C, Lee JH, Liu J, Mekios C, Gilliam TC, Pedley TA, Hauser WA, Ottman R. Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. Epilepsia. 2002 Jan;43(1):60-7. (http://www.ncbi.nlm.nih.gov/pubmed/11879388?dopt=Abstract)
  • Winawer MR, Ottman R, Hauser WA, Pedley TA. Autosomal dominant partial epilepsy with auditory features: defining the phenotype. Neurology. 2000 Jun 13;54(11):2173-6. (http://www.ncbi.nlm.nih.gov/pubmed/10851389?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2008
Published: December 16, 2014