Autosomal dominant partial epilepsy with auditory features
Alternate names[edit | edit source]
ADLTE; ADPEAF; Autosomal dominant lateral temporal lobe epilepsy; ETL1
Definition[edit | edit source]
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures.
Epidemiology[edit | edit source]
This condition appears to be uncommon, although its prevalence is unknown.
Cause[edit | edit source]
- ADPEAF is caused by changes (mutations) in the LGI1 or RELN gene.
- 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.
Gene mutations[edit | edit source]
- 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.
Inheritance[edit | edit source]
This condition is inherited in an autosomal dominant manner.
Onset[edit | edit source]
Signs and symptoms of the condition generally begin in adolescence or early adulthood.
Signs and symptoms[edit | edit source]
- 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.
Diagnosis[edit | edit source]
- The clinical diagnosis of ADEAF is established with characteristic clinical features, normal brain imaging (MRI or CT), and family history consistent with autosomal dominant inheritance.[1]
- Identification of a heterozygous pathogenic variant in LGI1, MICAL1, or RELN by molecular genetic testing establishes the diagnosis.
Treatment[edit | edit source]
The seizures associated with ADPEAF are typically well controlled with medications that are used to treat epilepsy (called antiepileptic drugs).
References[edit | edit source]
- ↑ Michelucci R, Nobile C. Autosomal Dominant Epilepsy with Auditory Features. 2007 Apr 20 [Updated 2019 Jan 10]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1537/
NIH genetic and rare disease info[edit source]
Autosomal dominant partial epilepsy with auditory features is a rare disease.
Autosomal dominant partial epilepsy with auditory features Resources | ||
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