Frequency
ADEAF appears to be uncommon, although its prevalence is unknown.
Causes
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.
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.
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.
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.
Inheritance
This condition is inherited in an autosomal dominant pattern, 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 LGI gene variant will develop seizures. Some people who have the altered gene never develop the condition, which is known as reduced penetrance. The likelihood of developing seizures in people with a variant in RELN or other associated genes is unknown. Most people with ADEAF have one affected parent and other relatives with the condition.
Other Names for This Condition
- ADEAF
- ADLTE
- ADPEAF
- Autosomal dominant lateral temporal lobe epilepsy
- Autosomal dominant partial epilepsy with auditory features
- Epilepsy, partial, with auditory features
- ETL1
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
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