STXBP1-related developmental and epileptic encephalopathy
Synonyms: STXBP1-related encephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | STXBP1-related developmental and epileptic encephalopathy | STXBP1-related encephalopathy |
| fr | Encéphalopathie développementale et épileptique associée à STXBP1 | Encéphalopathie liée à STXBP1 |
| de | STXBP1-assoziierte entwicklungsbedingte und epileptische Enzephalopathie | STXBP1-DEE · STXBP1-assoziierte Enzephalopathie |
| es | Encefalopatía epiléptica y del desarrollo asociada al gen STXBP1 | Encefalopatía asociada al gen STXBP1 |
| it | Encefalopatia epilettica e dello sviluppo correlata a STXBP1 | Encefalopatia correlata a STXBP1 |
| nl | STXBP1-gerelateerde ontwikkelingsachterstand en epileptische encefalopathie | STXBP1-gerelateerde encefalopathie · STXBP1-gerelateerde DEE |
| pt | Encefalopatia STXBP1-relacionada | |
| pl | Encefalopatia związana z STXBP1 | = en |
| cs | Encefalopatie související s STXBP1 | = en |
| uk | Енцефалопатія, повязана з STXBP1 | |
| zh | STXBP1-related encephalopathy | |
| tr | STXBP1-related encephalopathy |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612164 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0012812 | E | validated | |
| UMLS | C5681600 | 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 (2):
- ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STXBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11444 | ENSG00000136854 | 602926 | 9q34.11 | syntaxin binding protein 1 | 32643187[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.0885 / 100 000 | Denmark | Value and class | Validated | 26865513[PMID] |
| Cases/families | 282 cases | Worldwide | Case(s) | Validated | 32643187[PMID] | |
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | Worldwide | Value and class | 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
31 annotations · validated 2023-01-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011185 | EEG with focal epileptiform discharges | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0001251 | Ataxia | |
| HP:0010819 | Atonic seizure | |
| HP:0000729 | Autistic behavior | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002376 | Developmental regression | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0011203 | EEG with abnormally slow frequencies | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0011097 | Epileptic spasm | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011153 | Focal motor seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0000752 | Hyperactivity | |
| HP:0001252 | Hypotonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002540 | Inability to walk | |
| HP:0012469 | Infantile spasms | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0012448 | Delayed myelination | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001257 | Spasticity | |
Annotation source: 35190816[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/599373
- This record as JSON: /data/d/599373.json