ORPHA:33069
Dravet syndrome
Synonyms: SMEI · Severe myoclonic epilepsy of infancy · Severe myoclonus epilepsy of infancy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dravet syndrome | SMEI · Severe myoclonic epilepsy of infancy · Severe myoclonus epilepsy of infancy |
| fr | Syndrome de Dravet | EMSN · Epilepsie myoclonique sévère du nourrisson |
| de | Dravet-Syndrom | DS · Myoklonusepilepsie, frühkindliche schwere · SMEI · Schwere infantile Myoklonusepilepsie · Schwere myoklonische Epilepsie des Kleinkindalters |
| es | Síndrome de Dravet | Epilepsia grave de la infancia con mioclono · Epilepsia mioclónica grave de la infancia |
| it | Sindrome di Dravet | Epilessia mioclonica grave dell'infanzia · SMEI |
| nl | Syndroom van Dravet | Ernstige myoclonische epilepsie in de zuigelingentijd · Ernstige myoclonusepilepsie in de zuigelingentijd · SMEI |
| pt | Síndrome Dravet | Epilepsia mioclónica grave do lactente · SMEI |
| pl | Zespół Dravet | Ciężka miokloniczna padaczka niemowląt |
| cs | Syndrom Dravetové | DS · SMEI · Težká epilepsie s myoklonem v casném detství · Těžká myoklonická epilepsie v časném dětství · Těžká epilepsie s myoklonem v časném dětství |
| uk | Синдром Драве | Важка міоклонічна епілепсія дитячого віку · Важка міоклонічна епілепсія дитячого віку · SMEI |
| zh | Dravet综合征 | 婴儿严重肌阵挛型癫痫 |
| tr | Dravet sendromu | DS · KOBİ · Bebeklik döneminde ağır miyoklonik epilepsi · Bebeklik döneminde ağır miyoklonus epilepsi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607208 | E | validated | |
| OMIM | 612164 | BTNT | validated | |
| OMIM | 615744 | BTNT | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| ICD-11 | 8A61.11 | E | specific | validated |
| MONDO | 0011794 | E | validated | |
| UMLS | C0751122 | E | validated | |
| GARD | 10430 | E | validated | |
| MedDRA | 10073677 | 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 (5):
- ORPHA:182083Channelopathy with epilepsy
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 - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCN9A | Candidate gene tested in | Not yet assessed | HGNC:10597 | ENSG00000169432 | 603415 | 2q24.3 | sodium voltage-gated channel alpha subunit 9 | 19763161[PMID]_23895530[PMID]_21463275[PMID]_18755274[PMID] |
| SCN1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10586 | ENSG00000105711 | 600235 | 19q13.11 | sodium voltage-gated channel beta subunit 1 | 19710327[PMID]_23148524[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID] |
| GABRA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4075 | ENSG00000022355 | 137160 | 5q34 | gamma-aminobutyric acid type A receptor subunit alpha1 | 24623842[PMID] |
| GABRG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4087 | ENSG00000113327 | 137164 | 5q34 | gamma-aminobutyric acid type A receptor subunit gamma2 | 11748509[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID] |
| PCDH19 | Disease-causing germline mutation(s) in | Assessed | HGNC:14270 | ENSG00000165194 | 300460 | Xq22.1 | protocadherin 19 | 19214208[PMID]_22848613[PMID]_23808377[PMID]_23093055[PMID]_21463275[PMID] |
| SCN1A | Disease-causing germline mutation(s) in | Assessed | HGNC:10585 | ENSG00000144285 | 182389 | 2q24.3 | sodium voltage-gated channel alpha subunit 1 | 20301494[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID]_11359211[PMID]_12754708[PMID]_16458823[PMID] |
| SCN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:10588 | ENSG00000136531 | 182390 | 2q24.3 | sodium voltage-gated channel alpha subunit 2 | 19783390[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.3 / 100 000 | Europe | Value and class | Validated | 22719002[PMID]_25772213[PMID]_ 31302675[PMID] |
| Point prevalence | Unknown | — | Europe | 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.
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HPO phenotypes
46 annotations · validated 2020-01-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002376 | Developmental regression | |
| HP:0007359 | Focal-onset seizure | |
| HP:0007240 | Progressive gait ataxia | |
| Frequent (79-30%) | ||
| HP:0000739 | Anxiety | |
| HP:0007270 | Atypical absence seizure | |
| HP:0000729 | Autistic behavior | |
| HP:0002067 | Bradykinesia | |
| HP:0100543 | Cognitive impairment | |
| HP:0002396 | Cogwheel rigidity | |
| HP:0011172 | Complex febrile seizure | |
| HP:0012847 | Epilepsia partialis continua | |
| HP:0011468 | Facial tics | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002349 | Focal aware seizure | |
| HP:0006813 | Focal hemiclonic seizure | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011169 | Generalized clonic seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0011182 | Interictal epileptiform activity | |
| HP:0000466 | Limited neck range of motion | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0001336 | Myoclonus | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0001300 | Parkinsonism | |
| HP:0001327 | Photomyoclonic seizures | |
| HP:0007207 | Photosensitive tonic-clonic seizures | |
| HP:0002063 | Rigidity | |
| Occasional (29-5%) | ||
| HP:0002345 | Action tremor | |
| HP:0200048 | Cyanotic episode | |
| HP:0002307 | Drooling | |
| HP:0025101 | Dysgenesis of the hippocampus | |
| HP:0011185 | EEG with focal epileptiform discharges | |
| HP:0011198 | EEG with generalized epileptiform discharges | |
| HP:0008947 | Floppy infant | |
| HP:0002283 | Global brain atrophy | |
| HP:0100710 | Impulsivity | |
| HP:0002311 | Incoordination | |
| HP:0003066 | Limited knee extension | |
| HP:0000980 | Pallor | |
| HP:0001763 | Pes planus | |
| HP:0008081 | Pes valgus | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0000736 | Short attention span | |
| HP:0031475 | Status epilepticus without prominent motor symptoms | |
| HP:0100694 | Tibial torsion | |
| Very rare (<4-1%) | ||
| HP:0010818 | Generalized tonic seizure | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301494[PMID]_27264139[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33069
- This record as JSON: /data/d/33069.json