Autosomal dominant partial epilepsy with auditory features

Alternate names

ADLTE; ADPEAF; Autosomal dominant lateral temporal lobe epilepsy; ETL1

Definition

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures.

Epidemiology

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

Cause

• 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

• 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

Autosomal dominant pattern, a 50/50 chance.

This condition is inherited in an autosomal dominant manner.

Onset

Signs and symptoms of the condition generally begin in adolescence or early adulthood.

Signs and symptoms

• 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

• 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.<ref>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/</ref>
• Identification of a heterozygous pathogenic variant in LGI1, MICAL1, or RELN by molecular genetic testing establishes the diagnosis.

Treatment

The seizures associated with ADPEAF are typically well controlled with medications that are used to treat epilepsy (called antiepileptic drugs).

References

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NIH genetic and rare disease info

• NIH info on Autosomal dominant partial epilepsy with auditory features

Autosomal dominant partial epilepsy with auditory features is a rare disease.

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