{"Name":"Autosomal dominant epilepsy with auditory features","DiseaseID__c":"GARD:0002257","id":2257,"encodedName":"autosomal-dominant-epilepsy-with-auditory-features","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant epilepsy with auditory features","Xref_IDs__c":"C141441; C1838062; C537297; MEDGEN:325326; MONDO:0010898; NBK1537; ORPHA:101046","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010898","Disease_Description__c":"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 and having a relatively benign evolution.","GARD_Name__c":"Autosomal dominant epilepsy with auditory features","GARD_Synonym__c":"adeaf; adlte; adpeaf; autosomal dominant lateral temporal lobe epilepsy; familial epilepsy with auditory features; feaf - familial epilepsy with auditory features; partial epilepsy with auditory aura; partial epilepsy with auditory features","Curated_Disease_Description_Source__c":"GARD:0002257","Curated_Disease_Description__c":"Autosomal dominant epilepsy with auditory features (ADEAF) is an uncommon form of epilepsy that runs in families. People with this condition typically hear sounds (auditory features), such as buzzing, humming, or ringing, during seizures. Some people hear more complex sounds, like specific voices or music, or changes in the volume of sounds. Some people with ADEAF suddenly become unable to understand language before losing consciousness during a seizure. This inability to understand speech is known as receptive aphasia. Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, a feeling of dizziness or spinning (vertigo), or other symptoms that affect the senses. ADEAF is called a focal epilepsy because the seizures start in one part of the brain, rather than involving the entire brain from the beginning. Most people with ADEAF have  focal aware seizures, which do not cause a loss of consciousness.  These seizures are thought to begin in a part of the brain called the lateral temporal lobe.  In some people, seizure activity may spread from the lateral temporal lobe to affect other regions of the brain.  If seizure activity spreads to the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as focal seizures and spread throughout the brain are known as secondarily generalized seizures. Seizures associated with ADEAF usually begin in adolescence or young adulthood. They may be triggered by specific sounds, such as a ringing telephone or speech, but in most cases the seizures do not have any recognized triggers. In most affected people, seizures are infrequent and effectively controlled with medication.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:101046","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010898","ORPHANET_ID__c":"ORPHA:101046","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia con características auditivas","Spanish_Description_Source__c":"ORPHA:101046","Spanish_Description__c":"Es una enfermedad genética y poco frecuente de epilepsia parcial familiar caracterizada por crisis focales asociadas a importantes síntomas auditivos ictales y/o afasia receptiva, que se presentan en dos o más miembros de una familia , y tiene una evolución relativamente benigna.","Spanish_Disease_Name__c":"epilepsia con características auditivas","Spanish_GARD_Synonym__c":"adeaf; adlte; adpeaf; epilepsia con características auditivas autosómica dominante; epilepsia lateral del lóbulo temporal autosómica dominante; epilepsia parcial con aura auditiva; epilepsia parcial con características auditivas","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Autosomal dominant epilepsy with auditory features (ADEAF) is an uncommon form of epilepsy that runs in families. People with this condition typically hear sounds (auditory features), such as buzzing, humming, or ringing, during seizures. Some people hear more complex sounds, like specific voices or music, or changes in the volume of sounds. Some people with ADEAF suddenly become unable to understand language before losing consciousness during a seizure. This inability to understand speech is known as receptive aphasia. Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, a feeling of dizziness or spinning (vertigo), or other symptoms that affect the senses. ADEAF is called a focal epilepsy because the seizures start in one part of the brain, rather than involving the entire brain from the beginning. Most people with ADEAF have  focal aware seizures, which do not cause a loss of consciousness.  These seizures are thought to begin in a part of the brain called the lateral temporal lobe.  In some people, seizure activity may spread from the lateral temporal lobe to affect other regions of the brain.  If seizure activity spreads to the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as focal seizures and spread throughout the brain are known as secondarily generalized seizures. Seizures associated with ADEAF usually begin in adolescence or young adulthood. They may be triggered by specific sounds, such as a ringing telephone or speech, but in most cases the seizures do not have any recognized triggers. In most affected people, seizures are infrequent and effectively controlled with medication.","Curated_Disease_Description_Source__c":"GARD:0002257","GARD_Synonym__c":"adeaf; adlte; adpeaf; autosomal dominant lateral temporal lobe epilepsy; familial epilepsy with auditory features; feaf - familial epilepsy with auditory features; partial epilepsy with auditory aura; partial epilepsy with auditory features","Name":"Autosomal dominant epilepsy with auditory features","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"},{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"Epilepsy Action","Website__c":"https://www.epilepsy.org.uk/"},{"Account_Name__c":"CURE Epilepsy","Website__c":"https://www.cureepilepsy.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:101046"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:101046"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:101046"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1838062"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002257","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1537","Source__c":"Gene Review","Xref__c":"NBK1537"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537297","Source__c":"MONDO:0010898","Xref__c":"C537297"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325326","Source__c":"C1838062","Xref__c":"MEDGEN:325326"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838062","Source__c":"C1838062","Xref__c":"C1838062"},{"URL__c":"https://www.orpha.net/en/disease/detail/101046","Source__c":"C1838062; MONDO:0010898; ORPHA:101046","Xref__c":"ORPHA:101046"},{"URL__c":"https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features","Source__c":"GARD:0002257","Xref__c":"https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010898","Source__c":"GARD:0002257","Xref__c":"MONDO:0010898"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=784377008","Source__c":"C1838062","Xref__c":"784377008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C141441","Source__c":"C1838062","Xref__c":"C141441"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LGI1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lgi1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RELN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/reln","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MICAL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007359","HPO_Synonym__c":"Focal onset seizure; Focal seizure; Focal seizures; Focal-onset seizures; Partial seizure; Partial seizures; Seizure affecting one half of brain","HPO_Name__c":"Focal-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual perception in the absence of a visual stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002367","HPO_Synonym__c":"Visual hallucinations","HPO_Name__c":"Visual hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011185","HPO_Synonym__c":"Focal EEG Abnormality","HPO_Name__c":"EEG with focal epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002381","HPO_Synonym__c":"Difficulty finding words; Losing words; Loss of words","HPO_Name__c":"Aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Perception of sounds without auditory stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008765","HPO_Synonym__c":"Hallucinations of sound; Hearing sounds","HPO_Name__c":"Auditory hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007334","HPO_Synonym__c":"Focal seizure with secondary generalization; Focal to bilateral tonic-clonic seizure; Generalised tonic-clonic seizure with focal onset; Generalised tonic-clonic seizure with partial onset; Generalized tonic-clonic seizure with focal onset; Generalized tonic-clonic seizure with partial onset; Generalized tonic-clonic seizures with focal onset; Partial seizure with secondary generalization; Partial seizures with secondary generalization; Secondarily generalized tonic-clonic seizure; Secondarily generalized tonic-clonic seizures; Secondary generalized tonic clonic seizures; Secondary generalized tonic-clonic seizures","HPO_Name__c":"Bilateral tonic-clonic seizure with focal onset","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100710","HPO_Synonym__c":"Impulsive; Impulsivity","HPO_Name__c":"Impulsivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Seizures that occur while the affected individual is sleeping.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031951","HPO_Synonym__c":"Sleep seizures","HPO_Name__c":"Nocturnal seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An anomaly of metabolism or structure of the brain identified by imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410263","HPO_Synonym__c":"Abnormal brain imaging","HPO_Name__c":"Brain imaging abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011154","HPO_Synonym__c":"Focal autonomic seizures","HPO_Name__c":"Focal autonomic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011182","HPO_Synonym__c":"Epileptiform EEG discharges","HPO_Name__c":"Interictal epileptiform activity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002349","HPO_Synonym__c":"Focal aware seizures; Focal seizure with retained awareness; Focal seizure without impairment of awareness; Focal seizure without impairment of consciousness or awareness; Focal seizures without impairment of consciousness or awareness; Partial seizure with retained awareness; Partial seizure without impairment of awareness; Simple partial seizure; Simple partial seizures","HPO_Name__c":"Focal aware seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101046","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["adeaf"," adlte"," adpeaf"," autosomal dominant lateral temporal lobe epilepsy"," familial epilepsy with auditory features"," feaf - familial epilepsy with auditory features"," partial epilepsy with auditory aura"," partial epilepsy with auditory features"]}