More detailed information for clinicians ordering genetic tests can be found here. For this disorder a multigene panel that also includes deletion/duplication analysis is recommended (see Table 1).įor an introduction to multigene panels click here. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Identification of a heterozygous variant of uncertain significance in one of the genes listed in Table 1 does not establish or rule out the diagnosis.Ī multigene panel that includes LGI1, MICAL1, RELN, and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. Note: Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and " likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making. Identification of a heterozygous pathogenic (or likely pathogenic) variant in LGI1, MICAL1, or RELN by molecular genetic testing ( Table 1) establishes the diagnosis if other findings are inconclusive. The clinical diagnosis of ADEAF is established in a proband with the above clinical features, normal brain imaging studies (MRI or CT), and family history consistent with autosomal dominant inheritance. Other family members may have different seizure types, usually tonic-clonic (undetermined whether focal or generalized). However, focal epileptiform abnormalities (usually localized to the temporal region) are found in up to two thirds of individuals.įamily history is consistent with autosomal dominant inheritance (with reduced and age-dependent penetrance).Two or more family members (including the proband) must have a history of focal epilepsy with either ictal auditory symptoms or ictal aphasia. Note: Persons with epilepsy may report the inability to comprehend speech at the onset of seizures as a result of nonspecific confusion or alteration in consciousness thus, care should be taken in obtaining the medical history to distinguish this confusion from specific symptoms of aphasia (i.e., an inability to understand language in the absence of alteration in consciousness). Aphasia may be difficult to distinguish from nonspecific confusion or alteration of consciousness therefore, specific questions to assess the inability to understand spoken language in the absence of general confusion should be included in the clinical history. Seizures are usually well controlled after initiation of medical therapy.Īphasia that accompanies seizure onset. Age at onset is usually in adolescence or early adulthood (range: age 4-50 years). Some persons have seizures precipitated by sounds such as a ringing telephone. 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. Less commonly, other ictal symptoms may occur, including sensory symptoms (visual, olfactory, vertiginous, or cephalic) or motor, psychic, and autonomic symptoms. Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion. 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). Autosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations.
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