ORPHA:1945
Self-limited epilepsy with centrotemporal spikes
Synonyms: BECRS · BECTS · BRE · Benign epilepsy of childhood with centrotemporal spikes · Benign familial epilepsy of childhood with rolandic spikes · Benign rolandic epilepsy · Centrotemporal epilepsy · Rolandic epilepsy · SeLECTS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare focal childhood epilepsy characterized by seizures involving unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome. Self-Limited Epilepsy with CentroTemporal Spikes (SeLECTS) was formerly known as benign Rolandic epilepsy or benign epilepsy with centrotemporal spikes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Self-limited epilepsy with centrotemporal spikes | BECRS · BECTS · BRE · Benign epilepsy of childhood with centrotemporal spikes · Benign familial epilepsy of childhood with rolandic spikes · Benign rolandic epilepsy · Centrotemporal epilepsy · Rolandic epilepsy · SeLECTS |
| fr | Epilepsie autolimitée avec pointes centro-temporales | Epilepsie partielle bénigne infantile · Epilepsie partielle bénigne à pointes rolandiques · Epilepsie partielle bénigne à paroxysmes rolandiques · Epilepsie partielle bénigne à pointes centro-temporales · Epilepsie partielle bénigne à paroxysmes centro-temporaux · Epilepsie familiale bénigne de l'enfant à pointes rolandiques · EPCT · EPR · ERB · SeLECTS · Epilepsie rolandique bénigne · Epilepsie partielle rolandique |
| de | Selbstlimitierende Epilepsie mit zentrotemporalen Spikes | BECRS · BECTS · BRE · Benigne Rolando-Epilepsie · Benigne kindliche Epilepsie mit zentrotemporalen Spikes · Epilepsie, zentrotemporale · SeLECTS |
| es | Epilepsia autolimitada con puntas centrotemporales | SeLECTS · Epilepsia benigna de la infancia con puntas centrotemporales · Epilepsia benigna familiar de la infancia con puntas rolándicas · Epilepsia centrotemporal · Epilepsia rolándica · Epilepsia rolándica benigna |
| it | Epilessia autolimitante con punte centrotemporali | SeLECTS · Epilessia rolandica · BECRS · BECTS · BRE · Epilessia benigna dell'infanzia con punte centrotemporali · Epilessia benigna familiare dell'infanzia con punte rolandiche · Epilessia centrotemporale · Epilessia rolandica benigna |
| nl | Zelflimiterende epilepsie met centrotemporale pieken | BECRS · BECTS · BRE · Centrotemporale epilepsie · Goedaardige epilepsie in de kindertijd met centrotemporale pieken · Goedaardige familiale epilepsie in de kindertijd met rolandische pieken · Goedaardige rolandische epilepsie · Rolandische epilepsie · SeLECTS |
| pt | Epilepsia auto-limitada com picos centro-temporais | SeLECTS · BECRS · BECTS · BRE · Epilepsia benigna da infância com picos centro-temporais · Epilepsia benigna rolândica · Epilepsia centro-temporal · Epilepsia familiar benigna da infância com picos rolândicos · Epilepsia rolândica |
| pl | Padaczka rolandyczna | BECRS · BECTS · BRE · Łagodna padaczka dziecięca z iglicami w okolicy centralnoskroniowej · Łagodna padaczka rolandyczna · Łagodna rodzinna padaczka dziecięca z iglicami rolandycznymi · Padaczka centralno-skroniowa |
| cs | Rolandická epilepsie | BECRS · BECTS · BRE · Benigní rolandická epilepsie · Centrotemporální epilepsie · Benigní epilepsie v dětství s centrotemporálními hroty · Benigní epilepsie v dětství s rolandickými hroty |
| uk | Роландична епілепсія | BECRS · BECTS · Доброякісна епілепсія дитячого віку з центротемпоральними спалахами · Доброякісна сімейна епілепсія дитячого віку з роландичними нападами · Доброякісна роландична епілепсія · BRE · Центротемпоральна епілепсія |
| zh | 运动性癫痫 | 良性家族性儿童癫痫伴运动区棘波 |
| tr | Rolandik epilepsi | BRE · BECRS · BECTS · Sentrotemporal epilepsi · Selim rolandik epilepsi · Sentrotemporal sivri uçlu selim çocukluk çağı epilepsisi · Rolandik sivri uçlu selim ailesel çocukluk çağı epilepsisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 117100 | E | validated | |
| OMIM | 245570 | NTBT | validated | |
| ICD-10 | G40.0 | NTBT | attributed | validated |
| ICD-11 | 8A61.20 | E | specific | validated |
| MONDO | 0007295 | E | validated | |
| MeSH | D019305 | E | validated | |
| UMLS | C0376532 | E | validated | |
| GARD | 10287 | E | validated | |
| MedDRA | 10070530 | 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 (2):
- ORPHA:98749Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
rare genetic diseases - ORPHA:726812Self limited focal childhood epilepsy
rare genetic diseases; rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SRPX2 | Candidate gene tested in | Not yet assessed | HGNC:30668 | ENSG00000102359 | 300642 | Xq22.1 | sushi repeat containing protein X-linked 2 | |
| GABRG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4087 | ENSG00000113327 | 137164 | 5q34 | gamma-aminobutyric acid type A receptor subunit gamma2 | 25726841[PMID] |
| GRIN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:4585 | ENSG00000183454 | 138253 | 16p13.2 | glutamate ionotropic receptor NMDA type subunit 2A | 23933819[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-5 / 10 000 | 20 / 100 000 | Sweden | Value and class | Validated | 16638642[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.
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HPO phenotypes
21 annotations · validated 2019-10-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012557 | EEG with centrotemporal focal spike waves | |
| Frequent (79-30%) | ||
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0002307 | Drooling | |
| HP:0007332 | Focal hemifacial clonic seizure | |
| HP:0007359 | Focal-onset seizure | |
| HP:0025425 | Laryngospasm | |
| HP:0010535 | Sleep apnea | |
| HP:0009088 | Speech articulation difficulties | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000716 | Depression | |
| HP:0012534 | Dysesthesia | |
| HP:0000712 | Emotional lability | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0002076 | Migraine | |
| HP:0003401 | Paresthesia | |
| HP:0000736 | Short attention span | |
| HP:0001328 | Specific learning disability | |
| Very rare (<4-1%) | ||
| HP:0007270 | Atypical absence seizure | |
| HP:0001326 | EEG with irregular generalized spike and wave complexes | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30219586[PMID]_28801973[PMID]_28351718[PMID]_27780283[PMID]_31645314[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1945
- This record as JSON: /data/d/1945.json