autosomal dominant epilepsy with auditory features

Autosomal dominant epilepsy with auditory features (ADEAF) is a rare genetic condition characterized by focal seizures that are often accompanied by auditory hallucinations and receptive aphasia. This condition typically presents in two or more family members, indicating a familial pattern. The exact genetic basis remains unidentified, and the inheritance pattern has not been established. Clinical features commonly include focal-onset seizures (80-99% prevalence), auditory hallucinations (80-99%), and EEG findings of focal epileptiform discharges (80-99%). Other symptoms may include aphasia, visual hallucinations, and nocturnal seizures, though these occur less frequently.

The clinical picture of autosomal dominant epilepsy with auditory features primarily involves neurological symptoms. The most prevalent features are focal-onset seizures, which occur in 80-99% of cases, often accompanied by auditory hallucinations. EEG tests typically reveal focal epileptiform discharges, also seen in 80-99% of cases. Other symptoms include receptive aphasia (30-79%), interictal epileptiform activity (30-79%), and less common manifestations such as visual hallucinations and nocturnal seizures.

The documentation for autosomal dominant epilepsy with auditory features is limited largely due to the rarity of the condition, which affects a small number of individuals worldwide. This rarity makes it challenging to conduct systematic clinical studies and gather comprehensive data. Additionally, the lack of identified genes and established inheritance patterns further complicates the understanding of this condition, leading to gaps in clinical characterization.