ORPHA:163717
Familial mesial temporal lobe epilepsy
Synonyms: FLTLE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial mesial temporal lobe epilepsy | FLTLE |
| fr | Epilepsie temporale mésiale familiale | = en |
| de | Temporallappenepilepsie, mesiale, familiäre Form | = en |
| es | Epilepsia del lóbulo temporal mesial familiar | ELTM familiar |
| it | Epilessia familiare benigna del lobo temporale mesiale | |
| nl | Familiale mesiale temporaalkwabepilepsie | = en |
| pt | Epilepsia do lobo temporal mesial familiar | = en |
| pl | Łagodna rodzinna padaczka przyśrodkowej części płata skroniowego | = en |
| cs | Benigní familiární epilepsie meziálního temporálního laloku | = en |
| uk | Доброякісна сімейна мезіальна скронева епілепсія | Доброякісний FMTLE |
| zh | 良性家族性近中颞叶癫痫 | 良性FMTLE |
| tr | Selim ailesel mezyal temporal lob epilepsisi | Selim FMTLE |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611630 | BTNT | validated | |
| OMIM | 614417 | BTNT | validated | |
| OMIM | 615697 | BTNT | validated | |
| ICD-10 | G40.0 | NTBT | attributed | validated |
| ICD-11 | 8A61.4Y | NTBT | index | validated |
| MONDO | 0015586 | E | validated | |
| UMLS | C4749273 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98259Childhood-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CPA6 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:17245 | ENSG00000165078 | 609562 | 8q13.2 | carboxypeptidase A6 | 21922598[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163717
- This record as JSON: /data/d/163717.json