A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members...
Comprehensive, easy-to-understand information about this condition
How we create this content →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.
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.
To navigate your condition effectively, consider consulting a neurologist with expertise in epilepsy, particularly one familiar with familial epilepsy disorders. While there are currently no identified patient organizations or registries for autosomal dominant epilepsy with auditory features, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Genetic counseling may also be beneficial, especially if there is a suspicion of a genetic basis for the condition.
Actionable guidance for navigating care for autosomal dominant epilepsy with auditory features
To navigate your condition effectively, consider consulting a neurologist with expertise in epilepsy, particularly one familiar with familial epilepsy disorders. While there are currently no identified patient organizations or registries for autosomal dominant epilepsy with auditory features, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Genetic counseling may also be beneficial, especially if there is a suspicion of a genetic basis for the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
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.
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.
To navigate your condition effectively, consider consulting a neurologist with expertise in epilepsy, particularly one familiar with familial epilepsy disorders. While there are currently no identified patient organizations or registries for autosomal dominant epilepsy with auditory features, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Genetic counseling may also be beneficial, especially if there is a suspicion of a genetic basis for the condition.
Actionable guidance for navigating care for autosomal dominant epilepsy with auditory features
To navigate your condition effectively, consider consulting a neurologist with expertise in epilepsy, particularly one familiar with familial epilepsy disorders. While there are currently no identified patient organizations or registries for autosomal dominant epilepsy with auditory features, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Genetic counseling may also be beneficial, especially if there is a suspicion of a genetic basis for the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
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.
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.
To navigate your condition effectively, consider consulting a neurologist with expertise in epilepsy, particularly one familiar with familial epilepsy disorders. While there are currently no identified patient organizations or registries for autosomal dominant epilepsy with auditory features, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Genetic counseling may also be beneficial, especially if there is a suspicion of a genetic basis for the condition.
Actionable guidance for navigating care for autosomal dominant epilepsy with auditory features
To navigate your condition effectively, consider consulting a neurologist with expertise in epilepsy, particularly one familiar with familial epilepsy disorders. While there are currently no identified patient organizations or registries for autosomal dominant epilepsy with auditory features, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Genetic counseling may also be beneficial, especially if there is a suspicion of a genetic basis for the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
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Research studies investigating treatments and therapies for this condition.
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Data from ClinicalTrials.gov Jan 6, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
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Organizations with orphan designations or approved therapies for this disease