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Epilepsy, familial temporal lobe, 1(ETL1)

MedGen UID:
1643229
Concept ID:
C4551957
Disease or Syndrome
Synonym: Autosomal Dominant Partial Epilepsy with Auditory Features
 
Genes (locations): LGI1 (10q23.33); MICAL1 (6q21); RELN (7q22.1)
 
Monarch Initiative: MONDO:0700090
OMIM®: 600512

Disease characteristics

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. Age at onset is usually in adolescence or early adulthood (age 10-30 years). The clinical course of ADEAF is benign. Seizures are usually well controlled after initiation of medical therapy. [from GeneReviews]
Authors:
Roberto Michelucci  |  Elena Pasini  |  Emanuela Dazzo   view full author information

Additional descriptions

From OMIM
Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by Winawer et al., 2000). Genetic Heterogeneity of Temporal Lobe Epilepsy See also ETL2 (608096), which maps to chromosome 12q; ETL3 (611630), which maps to chromosome 4q; ETL4 (611631), which maps to chromosome 9q; ETL5 (614417), caused by mutation in the CPA6 gene (609562) on chromosome 8q13; ETL6 (615697), which maps to chromosome 3q25-q26; ETL7 (616436), caused by mutation in the RELN gene (600514) on chromosome 7q22; and ETL8 (616461), caused by mutation in the GAL gene (137035) on chromosome 11q13.  http://www.omim.org/entry/600512
From MedlinePlus Genetics
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.

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.

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.  https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features

Clinical features

From HPO
Deja vu aura
MedGen UID:
41442
Concept ID:
C0011194
Mental Process
A subjective feeling that an experience which is occurring for the first time has been experienced before.
Focal aware seizure
MedGen UID:
65895
Concept ID:
C0234974
Disease or Syndrome
A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.
Focal impaired awareness seizure
MedGen UID:
543022
Concept ID:
C0270834
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
Focal sensory seizure with visual features
MedGen UID:
75815
Concept ID:
C0278188
Disease or Syndrome
A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.
Focal sensory seizure with olfactory features
MedGen UID:
140831
Concept ID:
C0422853
Disease or Syndrome
Seizures characterized by olfactory phenomena as its first clinical manifestation.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Focal clonic seizure
MedGen UID:
155749
Concept ID:
C0752323
Disease or Syndrome
A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
Bilateral tonic-clonic seizure with focal onset
MedGen UID:
164077
Concept ID:
C0877017
Disease or Syndrome
A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.
Focal sensory seizure with auditory features
MedGen UID:
373879
Concept ID:
C1838063
Pathologic Function
A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.
Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
MedGen UID:
869088
Concept ID:
C4023506
Disease or Syndrome
A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.
Focal sensory seizure with vestibular features
MedGen UID:
1709041
Concept ID:
C5397769
Disease or Syndrome
A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole
MedGen UID:
1712446
Concept ID:
C5397783
Disease or Syndrome
A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.
Focal sensory seizure with cephalic sensation
MedGen UID:
1715911
Concept ID:
C5397816
Disease or Syndrome
A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.
Focal aware sensory seizure with auditory features
MedGen UID:
1712570
Concept ID:
C5397869
Disease or Syndrome
A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.
Focal automatism seizure
MedGen UID:
1718214
Concept ID:
C5397903
Disease or Syndrome
A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S
Nat Genet 2013 May;45(5):552-5. Epub 2013 Mar 31 doi: 10.1038/ng.2601. PMID: 23542701Free PMC Article

Diagnosis

Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S
Nat Genet 2013 May;45(5):552-5. Epub 2013 Mar 31 doi: 10.1038/ng.2601. PMID: 23542701Free PMC Article

Clinical prediction guides

Fabera P, Krijtova H, Tomasek M, Krysl D, Zamecnik J, Mohapl M, Jiruska P, Marusic P
Seizure 2015 Sep;31:120-3. Epub 2015 Jul 26 doi: 10.1016/j.seizure.2015.07.014. PMID: 26362388
Azmanov DN, Zhelyazkova S, Radionova M, Morar B, Angelicheva D, Zlatareva D, Kaneva R, Tournev I, Kalaydjieva L, Sander JW
Epilepsy Res 2011 Sep;96(1-2):101-8. Epub 2011 Jun 8 doi: 10.1016/j.eplepsyres.2011.05.006. PMID: 21645995

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