ORPHA:36387
Genetic epilepsy with febrile seizure plus
Synonyms: GEFS+ · Generalized epilepsy with febrile seizures plus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare familial epilepsy syndrome characterized by febrile, focal and generalized seizures, with a spectrum of phenotypes largely variable among different family members.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic epilepsy with febrile seizure plus | GEFS+ · Generalized epilepsy with febrile seizures plus |
| fr | Epilepsie génétique avec crises fébriles plus | GEFS+ · Epilepsie généralisée avec convulsions fébriles plus |
| de | Generalisierte Epilepsie mit Fieberkrämpfen plus | GEFS+ |
| es | Epilepsia genética con crisis febriles plus | EGCF+ · Epilepsia generalizada con crisis febriles plus · GEFS+ |
| it | Epilessia genetica con convulsioni febbrili plus | GEFS+ · Epilessia generalizzata con convulsioni febbrili plus |
| nl | Genetische epilepsie met koortsstuipen plus | GEFS+ · Gegeneraliseerde epilepsie met koortsstuipen plus |
| pt | Epilepsia generalizada com convulsões febris-plus | GEFS+ |
| pl | Padaczka uogólniona z drgawkami gorączkowymi plus | GEFS+ · Genetycznie uwarunkowana padaczka z drgawkami gorączkowymi plus |
| cs | GEFS+ | Generalizovaná epilepsie s febrilními křečemi plus |
| uk | Генералізована епілепсія з фебрильними судомами плюс | GEFS+ · Генетична епілепсія з фебрильними нападами-плюс |
| zh | 全面性癫痫伴热性惊厥附加症 | 遗传性癫痫伴热性惊厥附加症 |
| tr | Ateşli nöbetler ile seyreden jeneralize epilepsi-artı | GEFS + · Ateşli nöbetler ile seyreden genetik epilepsi-artı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604233 | E | validated | |
| OMIM | 604352 | BTNT | validated | |
| OMIM | 604403 | BTNT | validated | |
| OMIM | 607681 | BTNT | validated | |
| OMIM | 609800 | BTNT | validated | |
| OMIM | 612279 | BTNT | validated | |
| OMIM | 613060 | NTBT | validated | |
| OMIM | 613828 | BTNT | validated | |
| OMIM | 613863 | BTNT | validated | |
| OMIM | 614418 | BTNT | validated | |
| OMIM | 616172 | BTNT | validated | |
| OMIM | 618482 | BTNT | validated | |
| OMIM | 620755 | BTNT | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.2Y | NTBT | index | validated |
| MONDO | 0018214 | E | validated | |
| MeSH | C565808 | E | validated | |
| UMLS | C3502809 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98259Childhood-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98749Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
rare genetic diseases - ORPHA:98744Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:165805Familial mesial temporal lobe epilepsy with febrile seizures moved to · inactive
4
Genes
13 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADGRV1 | Candidate gene tested in | Not yet assessed | HGNC:17416 | ENSG00000164199 | 602851 | 5q14.3 | adhesion G protein-coupled receptor V1 | 12402266[PMID] |
| GABRD | Candidate gene tested in | Not yet assessed | HGNC:4084 | ENSG00000187730 | 137163 | 1p36.33 | gamma-aminobutyric acid type A receptor subunit delta | |
| SCN2A | Candidate gene tested in | Not yet assessed | HGNC:10588 | ENSG00000136531 | 182390 | 2q24.3 | sodium voltage-gated channel alpha subunit 2 | |
| SCN9A | Candidate gene tested in | Not yet assessed | HGNC:10597 | ENSG00000169432 | 603415 | 2q24.3 | sodium voltage-gated channel alpha subunit 9 | |
| CPA6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17245 | ENSG00000165078 | 609562 | 8q13.2 | carboxypeptidase A6 | 21922598[PMID] |
| FGF13 | Disease-causing germline mutation(s) in | Assessed | HGNC:3670 | ENSG00000129682 | 300070 | Xq26.3-q27.1 | fibroblast growth factor 13 | 33245860[PMID]_26063919[PMID] |
| GABRG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4087 | ENSG00000113327 | 137164 | 5q34 | gamma-aminobutyric acid type A receptor subunit gamma2 | |
| HCN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4845 | ENSG00000164588 | 602780 | 5p12 | hyperpolarization activated cyclic nucleotide gated potassium channel 1 | 30351409[PMID] |
| PRRT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30500 | ENSG00000167371 | 614386 | 16p11.2 | proline rich transmembrane protein 2 | 25522171[PMID] |
| SCN1A | Disease-causing germline mutation(s) in | Assessed | HGNC:10585 | ENSG00000144285 | 182389 | 2q24.3 | sodium voltage-gated channel alpha subunit 1 | 20301494[PMID] |
| SCN1B | Disease-causing germline mutation(s) in | Assessed | HGNC:10586 | ENSG00000105711 | 600235 | 19q13.11 | sodium voltage-gated channel beta subunit 1 | |
| SLC32A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11018 | ENSG00000101438 | 616440 | 20q11.23 | solute carrier family 32 member 1 | 34038384[PMID] |
| STX1B | Disease-causing germline mutation(s) in | Assessed | HGNC:18539 | ENSG00000099365 | 601485 | 16p11.2 | syntaxin 1B | 25362483[PMID] |
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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.
6
HPO phenotypes
28 annotations · validated 2019-07-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002197 | Generalized-onset seizure | |
| Frequent (79-30%) | ||
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0010819 | Atonic seizure | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0100543 | Cognitive impairment | |
| HP:0002539 | Cortical dysplasia | |
| HP:0002376 | Developmental regression | |
| HP:0010850 | EEG with spike-wave complexes | |
| HP:0007058 | Generalized cerebral atrophy/hypoplasia | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001252 | Hypotonia | |
| HP:0002311 | Incoordination | |
| HP:0011151 | Obtundation status | |
| HP:0007010 | Poor fine motor coordination | |
| Very rare (<4-1%) | ||
| HP:0000739 | Anxiety | |
| HP:0000729 | Autistic behavior | |
| HP:0002067 | Bradykinesia | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0007359 | Focal-onset seizure | |
| HP:0003066 | Limited knee extension | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0001763 | Pes planus | |
| HP:0002133 | Status epilepticus | |
| HP:0004684 | Talipes valgus | |
| HP:0100694 | Tibial torsion | |
| HP:0001337 | Tremor | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25917466[PMID]_26339958[PMID]_20301494[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/36387
- This record as JSON: /data/d/36387.json