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<span>Autosomal dominant epilepsy with auditory features</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/</span>
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<h1>Autosomal dominant epilepsy with auditory features</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
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<h2>Description</h2>
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<section><div class="mp-content"><p>Autosomal dominant epilepsy with auditory features (ADEAF) is an uncommon form of epilepsy that runs in families. People with this condition typically hear sounds (auditory features), such as buzzing, humming, or ringing, during seizures. Some people hear more complex sounds, like specific voices or music, or changes in the volume of sounds. Some people with ADEAF 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 that affect the senses.</p><p>ADEAF is called a focal epilepsy because the seizures start in one part of the brain, rather than involving the entire brain from the beginning. Most people with ADEAF have focal aware 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 the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as focal seizures and spread throughout the brain are known as secondarily generalized seizures.</p><p>Seizures associated with ADEAF 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.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>ADEAF appears to be uncommon, although its prevalence is unknown.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Variants (also called mutations) in the <a data-pid="17979" href="https://medlineplus.gov/genetics/gene/lgi1/"><em>LGI1</em></a> gene or <a data-pid="19083" href="https://medlineplus.gov/genetics/gene/reln/"><em>RELN</em></a> gene are the most common cause of ADEAF. Variants in other genes have been identified in small numbers of affected families, and the genetic cause in many families is unknown.</p><p>The <em>LGI1</em> gene provides instructions for making a protein called Lgi1 or epitempin, which is found primarily in nerve cells (neurons) in the <a class="image-modal" data-alt="A side view of the brain with various anatomical structures labeled." data-caption="" data-credit="National Institute on Aging/National Institutes of Health" data-filepath="images/PX000040_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000040" data-sourceurl="https://www.flickr.com/photos/nihgov/sets/72157663368688842" data-title="Side view of brain" href="https://medlineplus.gov/images/PX000040_PRESENTATION.jpeg" id="PX000040_3" title="Show image">brain<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Although the precise role of epitempin remains uncertain, researchers suggest it may play a role at the junction of neurons (<a class="image-modal" data-alt="Illustration of axon and dendrites with neuronal synapse highlighted" data-caption="" data-credit="National Institute of Mental Health/National Institutes of Health" data-filepath="images/PX0000K8_PRESENTATION.jpeg" data-imgtype="Genetics" data-lang="us" data-pix="PX0000K8" data-sourceurl="https://images.nimh.nih.gov/public_il/image_details.cfm?id=669" data-title="Neuronal synapse" href="https://medlineplus.gov/images/PX0000K8_PRESENTATION.jpeg" id="PX0000K8_4" title="Show image">synapses<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) where cell-to-cell communication takes place.</p><p>The <em>RELN</em> gene provides instructions for making a protein called reelin. Reelin is produced in the brain both during brain development and after birth. It appears to play several roles at synapses, including controlling communication between neurons.</p><p>Variants in the <em>LGI1</em> or <em>RELN</em> gene may impair the formation or function of synapses. Abnormal communication between neurons can lead to seizure activity in the brain.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the genes associated with Autosomal dominant epilepsy with auditory features</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/depdc5/">DEPDC5</a></li>
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<li><a href="https://medlineplus.gov/genetics/gene/lgi1/">LGI1</a></li>
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<li><a href="https://medlineplus.gov/genetics/gene/reln/">RELN</a></li>
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</ul>
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<p><strong>Additional Information from NCBI Gene:</strong></p>
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<ul class="relatedmp">
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<li><a href="https://www.ncbi.nlm.nih.gov/gene/64780" target="TheNewWin">MICAL1</a></li>
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</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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<h2>Inheritance</h2>
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<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_1" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the altered gene in each cell is sufficient to raise the risk of developing epilepsy. About two-thirds of people who inherit an <em>LGI</em> gene variant will develop seizures. Some people who have the altered gene never develop the condition, which is known as <a href="https://medlineplus.gov/genetics/understanding/inheritance/penetranceexpressivity/">reduced penetrance</a>. The likelihood of developing seizures in people with a variant in <em>RELN</em> or other associated genes is unknown. Most people with ADEAF have one affected parent and other relatives with the condition.</p></div>
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</section>
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||
</div>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
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<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>ADEAF</li> <li>ADLTE</li> <li>ADPEAF</li> <li>Autosomal dominant lateral temporal lobe epilepsy</li> <li>Autosomal dominant partial epilepsy with auditory features</li> <li>Epilepsy, partial, with auditory features</li> <li>ETL1</li>
|
||
</ul>
|
||
</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="resources">
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<h2>Additional Information & Resources</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C4551957/" target="TheNewWin">Genetic Testing Registry: Epilepsy, familial temporal lobe, 1</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
</ul>
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</div>
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</section>
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||
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<section>
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||
<div class="mp-content">
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||
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||
<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/2257/index" target="TheNewWin">Autosomal dominant epilepsy with auditory features</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
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||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/600512" target="TheNewWin">EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28autosomal+dominant+AND+partial+epilepsy+AND+auditory+features%5BTIAB%5D%29+OR+%28adlte%5BTIAB%5D%29+OR+%28adpeaf%5BTIAB%5D%29+OR+%28autosomal+dominant+lateral+temporal+lobe+epilepsy%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Brodtkorb E, Gu W, Nakken KO, Fischer C, Steinlein OK. Familial temporal lobe
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||
epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. Epilepsia.
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2002 Mar;43(3):228-35. doi: 10.1046/j.1528-1157.2002.32001.x. <a href="https://pubmed.ncbi.nlm.nih.gov/11906506" target="TheNewWin">Citation on PubMed</a></li>
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<li>Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di
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Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A,
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Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto
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SC, Ottman R, Michelucci R, Nobile C. Heterozygous reelin mutations cause
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autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 Jun
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4;96(6):992-1000. doi: 10.1016/j.ajhg.2015.04.020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/26046367" target="TheNewWin">Citation on PubMed</a></li>
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<li>Dazzo E, Rehberg K, Michelucci R, Passarelli D, Boniver C, Vianello Dri V,
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<li>Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli
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features. Nat Genet. 2002 Mar;30(3):335-41. doi: 10.1038/ng832. Epub 2002 Jan 28. <a href="https://pubmed.ncbi.nlm.nih.gov/11810107" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2606053/" target="TheNewWin">Free article on PubMed Central</a></li>
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<li>Michelucci R, Pasini E, Dazzo E. Autosomal Dominant Epilepsy with Auditory
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<li>Michelucci R, Pasini E, Malacrida S, Striano P, Bonaventura CD, Pulitano P,
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Epilepsia. 2013 Jul;54(7):1288-97. doi: 10.1111/epi.12194. Epub 2013 Apr 26.
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<li>Michelucci R, Poza JJ, Sofia V, de Feo MR, Binelli S, Bisulli F, Scudellaro E,
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<li>Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA,
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<li>Pippucci T, Licchetta L, Baldassari S, Palombo F, Menghi V, D'Aurizio R, Leta
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C, Stipa C, Boero G, d'Orsi G, Magi A, Scheffer I, Seri M, Tinuper P, Bisulli F.
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<li>Ventruti A, Kazdoba TM, Niu S, D'Arcangelo G. Reelin deficiency causes
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specific defects in the molecular composition of the synapses in the adult brain.
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Epub 2011 Jun 2. <a href="https://www.ncbi.nlm.nih.gov/pubmed/21664258" target="TheNewWin">Citation on PubMed</a></li>
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<li>Winawer MR, Martinelli Boneschi F, Barker-Cummings C, Lee JH, Liu J, Mekios C,
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linkage to chromosome 10q24. Epilepsia. 2002 Jan;43(1):60-7. doi:
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<li>Winawer MR, Ottman R, Hauser WA, Pedley TA. Autosomal dominant partial
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