Autosomal dominant partial epilepsy with auditory features syndrome is a rare, relatively benign, hereditary epileptic disorder that is characterized by

seizures An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or neural oscillation, synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much o ...

, seizure-associated hearing alterations and receptive

aphasia Aphasia is an inability to comprehend or formulate language because of damage to specific brain regions. The major causes are stroke and head trauma; prevalence is hard to determine but aphasia due to stroke is estimated to be 0.1–0.4% in th ...

. Unlike other genetic disorders, this one does not affect

intellect In the study of the human mind, intellect refers to, describes, and identifies the ability of the human mind to reach correct conclusions about what is true and what is false in reality; and how to solve problems. Derived from the Ancient Gree ...

Signs & symptoms

Symptoms of this disorder usually begin appearing in adolescence-early adulthood. People with this disorder have peculiar symptoms before and during seizures, these include: * Buzzing * Ringing * Humming * Voices * Music * Changes in the intensity/volume of sound Some people have receptive aphasia before temporarily losing consciousness to a seizure Less commonly, visual hallucinations, smell abnormalities, and/or

vertigo Vertigo is a condition where a person has the sensation of movement or of surrounding objects moving when they are not. Often it feels like a spinning or swaying movement. This may be associated with nausea, vomiting, sweating, or difficulties w ...

occur before and during seizures. People with this disorder typically have triggers that ''trigger'' their seizures. But for other people, they don't have a known trigger. Fortunately for people with ADPEAF, seizures don't usually occur in a regular basis. Partial seizures can also occur, during these kind of seizures, a person doesn't lose consciousness. These seizures may evolve into a full seizure (due to spreading through the entire brain instead of a part of it), when this happens, they are called ''secondary generalized seizures''

Causes

This disorder is caused by mutations in either the

LGI1 Leucine-rich, glioma inactivated 1, also known as LGI1, is a protein which in humans is encoded by the ''LGI1'' gene. It may be a metastasis suppressor. Function The leucine-rich glioma inactivated -1 gene is rearranged as a result of transloc ...

gene or the RELN gene. These mutations are inherited in an autosomal dominant fashion. Although some people with ADPEAF have been found to have mutations in other genes.

Etimology

This condition was discovered in 1995, ''Ottman et al.'' described a family with recurrent seizures and auditory symptoms. There are only 20 families across the world that are affected with the disorder.

References

{{reflist Autosomal dominant disorders Genetic diseases and disorders