ORPHA:101046
Epilepsy with auditory features
Synonyms: ADEAF · ADLTE · ADPEAF · Autosomal dominant epilepsy with auditory features · Autosomal dominant lateral temporal lobe epilepsy · EAF · Partial epilepsy with auditory aura · Partial epilepsy with auditory features
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epilepsy with auditory features | ADEAF · ADLTE · ADPEAF · Autosomal dominant epilepsy with auditory features · Autosomal dominant lateral temporal lobe epilepsy · EAF · Partial epilepsy with auditory aura · Partial epilepsy with auditory features |
| fr | Epilepsie avec manifestations auditives | ADEAF · ADLTE · EAF · Epilepsie autosomique dominante avec aura auditive · Epilepsie du lobe temporal latéral autosomique dominante · Epilepsie partielle avec aura auditives |
| de | Epilepsie mit akustischen Merkmalen | ADFEAM · ADLTE · ADPEAF · Autosomal-dominante Epilepsie mit akustischen Merkmalen · EAF · Partialepilepsie mit akustischen Auren · Temporallappen-Epilepsie, laterale, autosomal-dominante |
| es | Epilepsia con características auditivas | 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 |
| it | Epilessia autosomica dominante con segni uditivi | ADEAF · ADLTE · ADPEAF · Epilessia del lobo temporale, autosomica dominante · Epilessia parziale con aura uditiva · Epilessia parziale con segni uditivi |
| nl | Epilepsie met auditieve kenmerken | ADEAF · ADLTE · ADPEAF · Autosomaal dominante epilepsie met auditieve kenmerken · Autosomaal dominante laterale temporaalkwabepilepsie · EAF · Partiële epilepsie met auditieve aura · Partiële epilepsie met auditieve kenmerken |
| pt | Epilepsia com características auditivas | ADEAF · ADLTE · ADPEAF · EAF · Epilepsia com características auditivas autossómica dominante · Epilepsia do lobo temporal lateral autossómica dominante · Epilepsia parcial com aura auditiva · Epilepsia parcial com características auditivas |
| pl | Autosomalna dominująca padaczka z objawami słuchowymi | ADEAF · ADLTE · ADPEAF · Autosomalna dominująca padaczka bocznego płata skroniowego · Padaczka częściowa z aurą słuchową · Padaczka częściowa z objawami słuchowymi |
| cs | Autozomálně dominantní epilepsie se sluchovými rysy | ADEAF · ADLTE · ADPEAF · Autozomálně dominantní epilepsie laterálního temporálního laloku · Částečná epilepsie se sluchovou aurou · Částečná epilepsie se sluchovými rysy |
| uk | Аутосомно-домінантна епілепсія зі слуховими ознаками | ADEAF · ADLTE · ADPEAF · Аутосомно-домінантна латеральна скронева епілепсія · Парціальна епілепсія зі слуховою аурою · Парціальна епілепсія зі слуховими ознаками |
| zh | 常染色体显性遗传癫痫伴听觉症状 | 常染色体显性遗传颞叶外侧癫痫 |
| tr | İşitsel özelliklere sahip otozomal dominant epilepsi | ADEAF · ADLTE · ADPEAF · İşitsel auralı kısmi epilepsi · İşitsel özellikler ile seyreden kısmi epilepsi · Otozomal dominant lateral temporal lob epilepsisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600512 | E | validated | |
| OMIM | 616436 | BTNT | validated | |
| OMIM | 616461 | BTNT | validated | |
| ICD-10 | G40.0 | NTBT | attributed | validated |
| ICD-11 | 8A61.3Y | NTBT | index | validated |
| MONDO | 0010898 | E | validated | |
| MeSH | C537297 | E | validated | |
| UMLS | C1838062 | E | validated | |
| GARD | 2257 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:699645Variable age-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LGI1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6572 | ENSG00000108231 | 604619 | 10q23.33 | leucine rich glioma inactivated 1 | 12601709[PMID]_20301709[PMID] |
| MICAL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20619 | ENSG00000135596 | 607129 | 6q21 | microtubule associated monooxygenase, calponin and LIM domain containing 1 | 29394500[PMID] |
| RELN | Disease-causing germline mutation(s) in | Assessed | HGNC:9957 | ENSG00000189056 | 600514 | 7q22.1 | reelin | 26046367[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301709[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
19 annotations · validated 2021-03-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008765 | Auditory hallucinations | |
| HP:0011185 | EEG with focal epileptiform discharges | |
| HP:0007359 | Focal-onset seizure | |
| Frequent (79-30%) | ||
| HP:0002381 | Aphasia | |
| HP:0011182 | Interictal epileptiform activity | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0011154 | Focal autonomic seizure | |
| HP:0002349 | Focal aware seizure | |
| HP:0031951 | Nocturnal seizures | |
| HP:0002367 | Visual hallucinations | |
| Very rare (<4-1%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0000716 | Depression | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0100710 | Impulsivity | |
| HP:0002076 | Migraine | |
| Excluded (0%) | ||
| HP:0410263 | Brain imaging abnormality | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27683934[PMID]_29179159[PMID]_20301709[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101046
- This record as JSON: /data/d/101046.json