Lethal neonatal spasticity-epileptic encephalopathy syndrome
Synonyms: Lethal neonatal rigidity-multifocal seizure syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning <i>in utero</i>. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal neonatal spasticity-epileptic encephalopathy syndrome | Lethal neonatal rigidity-multifocal seizure syndrome |
| fr | Syndrome néonatal létal de spasticité-encéphalopathie épileptique | Syndrome néonatal létal de rigidité-convulsions multifocales |
| de | Letale neonatale Spastik-epileptische Enzephalopathie-Syndrom | Letale neonatale Rigidität-multifokale Krämpfe-Syndrom |
| es | Síndrome de espasticidad neonatal letal-encefalopatía epiléptica | Síndrome de rigidez neonatal letal-crisis multifocales |
| it | Sindrome spasticità neonatale letale-encefalopatia epilettica | Sindrome rigidità neonatale letale-convulsioni multifocali |
| nl | Letale neonatale spasticiteit - epileptische encefalopathie-syndroom | Letale neonatale rigiditeit - multifocale insulten-syndroom |
| pt | Espasticidade neonatal grave com encefalopatia epilética | |
| pl | Zespół śmiertelnej spastyczności noworodków i encefalopatii padaczkowej | Zespół śmiertelnej spastyczności noworodków i wieloogniskowych ataków padaczkowych |
| cs | Syndrom zahrnující letální neonatální spasticitu a epileptickou encefalopatii | Syndrom zahrnující letální neonatální rigiditu a multifokální záchvaty |
| uk | Летальний синдром неонатальної спастичності-епілептичної енцефалопатії | Летальний неонатальний ригідно-мультифокальний судомний синдром |
| zh | 致命性新生儿痉挛-癫痫性脑病综合征 | 致命性僵直-多灶性癫痫综合征 |
| tr | Ölümcül Yenidoğan spastisite-epileptik ensefalopati sendromu | Letal yenidoğan sertlik-multifokal nöbet sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614498 | E | validated | |
| OMIM | 618056 | NTBT | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0013784 | E | validated | |
| MONDO | 13784 | E | validated | |
| UMLS | C3281029 | 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 (1):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRAT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21701 | ENSG00000106009 | 614506 | 7p22.3 | BRCA1 associated ATM activator 1 | 25500575[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 25500575[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25500575[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435845
- This record as JSON: /data/d/435845.json