Generalized epilepsy-paroxysmal dyskinesia syndrome
Synonyms: GEPD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the <i>KCNMA1</i> gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Generalized epilepsy-paroxysmal dyskinesia syndrome | GEPD |
| fr | Syndrome d'épilepsie généralisée-dyskinésie paroxystique | |
| de | Generalisierte Epilepsie-paroxysmale Dyskinesie-Syndrom | |
| es | Síndrome de epilepsia generalizada-discinesia paroxística | = en |
| it | Epilessia generalizzata - discinesia parossistica | = en |
| nl | Gegeneraliseerde epilepsie - paroxysmale dyskinesie-syndroom | = en |
| pt | Epilepsia generalizada - discinesia paroxística | EGDP |
| pl | Padaczka uogólniona - dyskinezja napadowa | = en |
| cs | Syndrom zahrnující generalizovanou epilepsii a paroxyzmální dyskinezi | = en |
| uk | Синдром генералізованої епілепсії-пароксизмальної дискінезії | = en |
| zh | 全身性癫痫-阵发性运动障碍综合征 | = en |
| tr | Jeneralize epilepsi-paroksismal diskinezi sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609446 | E | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.2Y | NTBT | index | validated |
| MONDO | 0012276 | E | validated | |
| MeSH | C563719 | E | validated | |
| UMLS | C1836173 | 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:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNMA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6284 | ENSG00000156113 | 600150 | 10q22.3 | potassium calcium-activated channel subfamily M alpha 1 | 15937479[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
11 annotations · validated 2018-04-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010849 | EEG with spike-wave complexes (>3.5 Hz) | |
| HP:0002197 | Generalized-onset seizure | Diagnostic criterion |
| HP:0007166 | Paroxysmal dyskinesia | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002072 | Chorea | |
| HP:0000565 | Esotropia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0000639 | Nystagmus | |
Annotation source: 15937479[PMID]_12366739[PMID]_26195193[PMID]_11520321[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79137
- This record as JSON: /data/d/79137.json