ORPHA:1942
Epilepsy with myoclonic-atonic seizures
Synonyms: Doose syndrome · EMAS · EMAtS · Epilepsy with myoclonic-astatic seizures · MAE · Myoclonic atonic epilepsy · Myoclonic-astatic epilepsy in early childhood
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
A rare, childhood-onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epilepsy with myoclonic-atonic seizures | Doose syndrome · EMAS · EMAtS · Epilepsy with myoclonic-astatic seizures · MAE · Myoclonic atonic epilepsy · Myoclonic-astatic epilepsy in early childhood |
| fr | Epilepsie avec crises myoclono-atoniques | EMAS · EMAtS · MAE · Syndrome de Doose · Epilepsie myoclono-astatique du jeune enfant |
| de | Epilepsie mit myoklonisch-astatischen Krisen | Doose-Syndrom · EMAS · EMAtS · Epilepsie mit myoklonisch-astatischen Krämpfen · Epilepsie mit myoklonisch-atonischen Anfällen · MAE · Myoklonisch-astatische Epilepsie des frühen Kindesalters · Myoklonisch-atone Epilepsie |
| es | Epilepsia con crisis mioclónicas-atónicas | EMAS · EMAtS · Epilepsia con crisis mioclónicas astáticas · Epilepsia mioclónica astática infantil temprana · Epilepsia mioclónica atónica · MAE · Síndrome de Doose |
| it | Epilessia mioclono-astatica | EMAS · Epilessia atonica mioclonica · Epilessia con crisi mioclono-astatiche · Epilessia con crisi mioclono-atoniche · Epilessia mioclonica-astatica della prima infanzia · MAE · Sindrome di Doose |
| nl | Epilepsie met myoclonisch-atonische insulten | EMAS · EMAtS · Epilepsie met myoclonisch-astatische insulten · MAE · Myoclonisch-astatische epilepsie in de vroege kindertijd · Myoclonische atonische epilepsie · Syndroom van Doose |
| pt | Epilepsia com crises mioclonico-atónicas | Epilepsia com crises mioclonico-estáticas · Epilepsia mioclónica atónica · Epilepsia mioclónico-estática na primeira infância · MAE · Síndrome Doose · EMAS · EMAtS |
| pl | Padaczka miokloniczno-astatyczna | EMAS · MAE · Miokloniczna padaczka atoniczna · Padaczka z napadami miokloniczno-astatycznymi · Padaczka z napadami miokloniczno-astatycznymi we wczesnym dzieciństwie · Padaczka z napadami miokloniczno-atonicznymi · Zespół Doose |
| cs | Myoklonickoastatická epilepsie | Dooseho syndrom · EMAS · MAE · Myoklonickoatonická epilepsie · Epilepsie s myoklonickoastatickými křečemi · Epilepsie s myoklonickoatonickými křečemi · Myoklonickoastatická epilepsie v časném dětství |
| uk | Міоклонічно-астатична епілепсія | Синдром Дузе · EMAS · Епілепсія з міоклонічно-астатичними нападами · Епілепсія з міоклонічно-атонічними нападами · МАЕ · Міоклонічна атонічна епілепсія · Міоклонічно-астатична епілепсія в ранньому дитинстві |
| zh | 肌阵挛性无定向癫痫 | 幼儿早期出现的肌阵挛-站立不能发作 |
| tr | Miyoklonik-astastik epilepsi | MAE · EMAS · Doose sendromu · Miyoklonik atonik epilepsi · Miyoklonik-atonik nöbetler ile seyreden epilepsi · Miyoklonik-astatik nöbetler ile seyreden epilepsi · Erken çocukluk döneminde miyoklonik-astatik epilepsi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615369 | BTNT | validated | |
| OMIM | 616421 | BTNT | validated | |
| OMIM | 618587 | BTNT | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| ICD-11 | 8A61.22 | E | specific | validated |
| MONDO | 0016025 | E | validated | |
| MONDO | 14633 | E | validated | |
| MONDO | 16025 | E | validated | |
| UMLS | C0393702 | E | validated | |
| GARD | 2169 | E | validated | |
| MedDRA | 10081179 | 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 (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.
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC6A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11042 | ENSG00000157103 | 137165 | 3p25.3 | solute carrier family 6 member 1 | 25865495[PMID] |
| AP2M1 | Disease-causing germline mutation(s) in | Assessed | HGNC:564 | ENSG00000161203 | 601024 | 3q27.1 | adaptor related protein complex 2 subunit mu 1 | 31104773[PMID] |
| CHD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1917 | ENSG00000173575 | 602119 | 15q26.1 | chromodomain helicase DNA binding protein 2 | 23708187[PMID] |
| NEXMIF | Disease-causing germline mutation(s) in | Assessed | HGNC:29433 | ENSG00000050030 | 300524 | Xq13.3 | neurite extension and migration factor | 32469098[PMID] |
| SCN1A | Disease-causing germline mutation(s) in | Assessed | HGNC:10585 | ENSG00000144285 | 182389 | 2q24.3 | sodium voltage-gated channel alpha subunit 1 | 21396429[PMID] |
| SLC2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11005 | ENSG00000117394 | 138140 | 1p34.2 | solute carrier family 2 member 1 | 21555602[PMID]_31170314[PMID] |
| SYNGAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11497 | ENSG00000197283 | 603384 | 6p21.32 | synaptic Ras GTPase activating protein 1 | 32469098[PMID] |
5
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
44 annotations · validated 2021-04-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011197 | EEG with focal spike waves | |
| HP:0011170 | Myoclonic atonic seizures | |
| Frequent (79-30%) | ||
| HP:0010819 | Atonic seizure | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0002392 | EEG with polyspike wave complexes | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0000752 | Hyperactivity | |
| HP:0001249 | Intellectual disability | |
| HP:0002332 | Lack of peer relationships | |
| Occasional (29-5%) | ||
| HP:0100851 | Abnormal emotion/affect behavior | |
| HP:0001251 | Ataxia | |
| HP:0000729 | Autistic behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0001326 | EEG with irregular generalized spike and wave complexes | |
| HP:0011182 | Interictal epileptiform activity | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0011171 | Simple febrile seizure | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0000463 | Anteverted nares | |
| HP:0000289 | Broad philtrum | |
| HP:0000750 | Delayed speech and language development | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002292 | Frontal balding | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0011220 | Prominent forehead | |
| HP:0001159 | Syndactyly | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0009928 | Thick nasal alae | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002317 | Unsteady gait | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| Excluded (0%) | ||
| HP:0011097 | Epileptic spasm | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 29729532[PMID]_32469098[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1942
- This record as JSON: /data/d/1942.json