Rolandic epilepsy-speech dyspraxia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rolandic epilepsy-speech dyspraxia syndrome | |
| fr | Syndrome d'épilepsie rolandique-dyspraxie de la parole | |
| de | Rolando-Epilepsie-Sprachdyspraxie-Syndrom | |
| es | Síndrome de epilepsia rolándica-dispraxia del habla | |
| it | Sindrome da epilessia rolandica - disprassia verbale | |
| nl | Rolandische epilepsie - spraakdyspraxie-syndroom | |
| pt | Síndrome de epilepsia rolândica-dispraxia do discurso | |
| pl | Padaczka rolandyczna - dyspraksja mowy | |
| cs | Syndrom zahrnující rolandickou epilepsii a verbální dyspraxii | |
| uk | Синдром роландичної епілепсії та мовленнєвої диспраксії | |
| zh | 罗兰迪克性癫痫-言语障碍综合征 | |
| tr | Rolandik epilepsi-konuşma dispraksi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245570 | NTBT | validated | |
| OMIM | 300643 | BTNT | validated | |
| ICD-10 | G40.8 | NTBT | attributed | validated |
| ICD-11 | 8A61.2Y | NTBT | index | validated |
| MONDO | 0015587 | E | validated | |
| UMLS | C4707308 | 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:98259Childhood-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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRIN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:4585 | ENSG00000183454 | 138253 | 16p13.2 | glutamate ionotropic receptor NMDA type subunit 2A | 23933818[PMID] |
| SRPX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30668 | ENSG00000102359 | 300642 | Xq22.1 | sushi repeat containing protein X-linked 2 | 16497722[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 277 cases | Worldwide | Case(s) | Validated | 16497722[PMID]_23933820[PMID]_24995671[PMID]_18248446[PMID] | |
| 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.
HPO phenotypes
18 annotations · validated 2019-08-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001250 | Seizure | |
| HP:0011098 | Speech apraxia | |
| Frequent (79-30%) | ||
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0031491 | Continuous spike and waves during slow sleep | |
| HP:0002307 | Drooling | |
| HP:0011196 | EEG with focal sharp waves | |
| HP:0011198 | EEG with generalized epileptiform discharges | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0031434 | Abnormal speech prosody | |
| HP:0010300 | Abnormally low-pitched voice | |
| HP:0001260 | Dysarthria | |
| HP:0001611 | Hypernasal speech | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002546 | Incomprehensible speech | |
| HP:0000736 | Short attention span | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 7574460[PMID]_18248446[PMID]_27683935[PMID]_16497722[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163721
- This record as JSON: /data/d/163721.json