Autosomal dominant partial epilepsy with auditory features

Lore & Background

Symptoms of ADPEAF usually begin appearing in adolescence or early adulthood. People with this disorder may have auditory symptoms before and during seizures, such as buzzing, ringing, humming, voices, music, changes in sound intensity, or an inability to understand speech (receptive aphasia). Less commonly, visual hallucinations, smell abnormalities, or vertigo can occur. Some individuals experience receptive aphasia before temporarily losing consciousness to a seizure.

Reader's Guide

ADPEAF was first reported in 1995 when Ottman et al. described a family with recurrent seizures and auditory symptoms. Variants in the LGI1 gene or the RELN gene have commonly been hypothesized as causes, but recent advances suggest that whether someone has ADPEAF is usually not determined by genetics alone; multiple factors are likely involved. It is not uncommon for people with ADPEAF to have no known family members with the disorder. The condition is considered rare and relatively benign, with seizure frequency varying greatly from person to person. Some individuals report specific sounds that can trigger their seizures, though most do not have a known trigger. Partial seizures are often the most common type.

Did You Know?

• Symptoms of ADPEAF usually begin in adolescence or early adulthood.
• Auditory symptoms before and during seizures can include buzzing, ringing, humming, voices, music, or changes in sound intensity.
• Some people with ADPEAF experience receptive aphasia before temporarily losing consciousness to a seizure.
• Variants in the LGI1 gene are the primary known cause of ADPEAF; RELN is associated with a different disorder, and the condition is not typically considered multifactorial.