TNK2-related epilepsy with severe cognitive regression
Synonyms: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TNK2-related epilepsy with severe cognitive regression | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression |
| fr | Epilepsie avec regression cognitive sévère associée à TNK2 | Epilepsie temporale mésiale infantile avec régression cognitive sévère |
| de | TNK2-assoziierte Epilepsie mit schwerer kognitiver Rückentwicklung | Infantile mesiale Temporallappenepilepsie mit schwerer kognitiver Regression |
| es | Epilepsia con regresión cognitiva grave asociada al gen TNK2 | Epilepsia del lóbulo temporal mesial de inicio en el lactante con regresión cognitiva grave |
| it | Epilessia correlata a TNK2 con grave regressione cognitiva | Epilessia del lobo temporale mesiale ad esordio infantile con grave regressione cognitiva |
| nl | TNK2-gerelateerde epilepsie met ernstige cognitieve regressie | Infantiele mesiale temporaalkwabepilepsie met ernstige cognitieve regressie |
| pt | Epilepsia do lobo temporal mesial com início na infância e regressão cognitiva grave | |
| pl | Padaczka przyśrodkowej części płata skroniowego o początku w wieku dziecięcym z ciężką regresją poznawczą | = en |
| cs | Epilepsie meziotemporálního laloku s nástupem u kojenců, s těžkou kognitivní regresí | = en |
| uk | Інфантильна мезіальна скронева епілепсія з тяжкою когнітивною регресією | |
| zh | 婴儿期起病颞叶内侧癫痫伴严重认知功能减退 | |
| tr | Ağır bilişsel gerileme ile seyreden infantil başlangıçlı mezyal temporal lob epilepsisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G40.2 | NTBT | attributed | validated |
| MONDO | 0018314 | E | validated | |
| UMLS | C4750853 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19297 | ENSG00000061938 | 606994 | 3q29 | tyrosine kinase non receptor 2 | 23686771[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23686771[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391316
- This record as JSON: /data/d/391316.json