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It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0010898/ORPHA:101046"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":19,"sourceGroups":{"omim":0,"orphanet":19,"published":0}},"features":[{"hpoId":"HP:0012332","label":"Abnormal autonomic nervous system physiology","primary":false},{"hpoId":"HP:0002381","label":"Aphasia","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0008765","label":"Auditory hallucination","primary":false},{"hpoId":"HP:0002069","label":"Bilateral tonic-clonic seizure","primary":false},{"hpoId":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","primary":false},{"hpoId":"HP:0410263","label":"Brain imaging abnormality","primary":false},{"hpoId":"HP:0000716","label":"Depression","primary":false},{"hpoId":"HP:0011185","label":"EEG with focal epileptiform discharges","primary":false},{"hpoId":"HP:0011154","label":"Focal autonomic seizure","primary":false},{"hpoId":"HP:0002349","label":"Focal aware seizure","primary":false},{"hpoId":"HP:0007359","label":"Focal-onset seizure","primary":false},{"hpoId":"HP:0002197","label":"Generalized-onset seizure","primary":false},{"hpoId":"HP:0100710","label":"Impulsivity","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0011182","label":"Interictal epileptiform activity","primary":false},{"hpoId":"HP:0002076","label":"Migraine","primary":false},{"hpoId":"HP:0031951","label":"Nocturnal seizures","primary":false},{"hpoId":"HP:0002367","label":"Visual hallucination","primary":false}],"ledeHtml":"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.","mondoId":"MONDO:0010898","records":[{"frequencyKind":"range","key":"2ce42908c2e09b0dcc7665034c9142adfec9b8f2ef700f1b914dadf1e71d9bbb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101046","disease_name":"Epilepsy with auditory features","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011185","is_excluded":false,"label":"EEG with focal epileptiform discharges","onset_id":null,"reference":"ORPHA:101046","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"329603ae6174b49f0bb7b4ce53f11b4bf42eae7f472d9cca451ac2998c4b7575","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101046","disease_name":"Epilepsy with auditory 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condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the LGI1 gene or RELN 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 LGI1 gene provides instructions for making a protein called Lgi1 or epitempin, which is found primarily in nerve cells (neurons) in the brain. Although the precise role of epitempin remains uncertain, researchers suggest it may play a role at the junction of neurons (synapses) where cell-to-cell communication takes place.</p><p>The RELN 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 LGI1 or RELN gene may impair the formation or function of synapses. Abnormal communication between neurons can lead to seizure activity in the brain.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Autosomal dominant epilepsy with auditory features?"},{"bodyHtml":"<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><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"autosomal-dominant-epilepsy-with-auditory-features","sourceDocuments":[{"name":"Autosomal dominant epilepsy with auditory features","reviewed":"2023-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:38.538597+00:00","label":"Causes","pageSha256":"0eae9161a4b34576786dac9ca6b2a7023dd4e704d6ed05af6963db65c47ddffe","sourceUrl":"https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Autosomal dominant epilepsy with auditory features"},"schemaVersion":1}