Clinical Guidance

Auditory symptoms were less frequent with LGI1 pathogenic variants that predict truncation in the terminal epilepsy-associated (epitempin) domain than with other LGI1 pathogenic variant types/ domain combinations . No significant clinical differences were observed between families with an LGI1 pathogenic variant and families without an identified pathogenic variant . Phenotypic features were similar in published familial cases with LGI1, MICAL1, or RELN pathogenic variants . Further, no phenotypic differences have been found between simplex cases (i.e., a single occurrence in a family) and published familial cases of epilepsy with auditory features [, , , , ].

Source: GeneReviews — "Autosomal Dominant Epilepsy with Auditory Features"

Penetrance

Estimates of penetrance in studies of families with ADEAF range from 54% to 85% [, , , ]. This variability may in part result from the use of different statistical models across these studies. LGI1. Based on analysis of obligate heterozygotes in 24 published families, penetrance of LGI1 pathogenic variants was estimated at 67% (95% CI; range: 55%-77%) . In a study of 33 families in which probands were excluded, penetrance for epilepsy was estimated at 61% in ten families with an LGI1 pathogenic variant and 35% in families without an identified pathogenic variant, suggesting that inheritance may be complex in some families .

Source: GeneReviews — "Autosomal Dominant Epilepsy with Auditory Features"

Diagnostic Criteria

Consensus clinical diagnostic criteria for autosomal dominant epilepsy with auditory features (ADEAF) have been published by the International League Against Epilepsy (ILAE) .

Suggestive Findings

ADEAF should be suspected in individuals with the following clinical, neuroimaging, and EEG findings and family history. Clinical findings. A history consistent with focal epilepsy typically in adolescence/adulthood (age of onset 10-30 years) with no prior history of seizures or developmental delays. Seizure semiology is consistent with focal aware seizures with auditory symptoms and/or receptive aphasia:

Source: GeneReviews — "Autosomal Dominant Epilepsy with Auditory Features"

Differential Diagnosis

Selected genes associated with focal epilepsy in the differential diagnosis of autosomal dominant epilepsy with auditory features (ADEAF) are listed in . Table 3. Selected Genes of Interest in the Differential Diagnosis of Autosomal Dominant Epilepsy with Auditory Features

Management Guidelines

No clinical practice guidelines for autosomal dominant epilepsy with auditory features (ADEAF) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with autosomal dominant epilepsy with auditory features (ADEAF), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Autosomal Dominant Epilepsy with Auditory Features: Recommended Evaluations Following Initial Diagnosis

Source: GeneReviews — "Autosomal Dominant Epilepsy with Auditory Features"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: there may not be clinical trials for this disorder.

Source: GeneReviews — "Autosomal Dominant Epilepsy with Auditory Features"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Autosomal Dominant Epilepsy with Auditory Features: Recommended Surveillance

Source: GeneReviews — "Autosomal Dominant Epilepsy with Auditory Features"