MedGen

Autosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing; less common forms are distortions (e.g., volume changes) or complex sounds (e.g., specific songs or voices). Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion. Less commonly, other ictal symptoms may occur, including sensory symptoms (visual, olfactory, vertiginous, or cephalic) or motor, psychic, and autonomic symptoms. Most affected individuals have focal to bilateral tonic-clonic seizures, usually accompanied by "focal aware" and "focal impaired-awareness" seizures, with auditory symptoms as a major focal aware seizure manifestation. Some persons have seizures precipitated by sounds such as a ringing telephone. Age at onset is usually in adolescence or early adulthood (range: age 4-50 years). The clinical course of ADEAF is benign. Seizures are usually well controlled after initiation of medical therapy. [from GeneReviews]

Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene. [from MONDO]

Early-onset epilepsy-5 with or without developmental delay (EPEO5) is an autosomal recessive neurologic disorder characterized by the onset of various types of seizures late in the first decade or during adolescence. Focal seizures are common. Most affected individuals have developmental delay, variable impaired intellectual development, and/or behavioral and neuropsychiatric abnormalities (Stogmann et al., 2013; Abdulkareem et al., 2023). For a discussion of genetic heterogeneity of EPEO, see 617290. [from OMIM]

A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22. [from MONDO]

A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. [from HPO]