ORPHA:140927
Self-limited neonatal/infantile epilepsy
Synonyms: BFNIS · Benign familial neonatal-infantile seizures · Benign neonatal-infantile epilepsy · SeLFNIE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neonatal/infantile-onset epilepsy syndrome characterized by brief focal seizures between the first days and six months of life in otherwise healthy infants. Seizures often occur in clusters and may include motor symptoms and autonomic signs (including apnea and cyanosis). Occasionally generalized seizures are present. Typically, seizures resolve spontaneously without causing any long-term neurological effects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Self-limited neonatal/infantile epilepsy | BFNIS · Benign familial neonatal-infantile seizures · Benign neonatal-infantile epilepsy · SeLFNIE |
| fr | Epilepsie néonatale/infantile autolimitée | Convulsions néonatales-infantiles bénignes familiales · Epilepsie néonatale-infantile bénigne · SeLFNIE |
| de | Selbstlimitierende neonatale und infantile Epilepsie | BFNIS · Benigne familiäre neonatale und infantile Anfälle · Benigne neonatal-infantile Epilepsie · SeLFNIE |
| es | Epilepsia neonatal/infantil autolimitada | BFNIS · Crisis benignas neonatales-infantiles familiares · Epilepsia benigna neonatal-infantil · SeLFNIE |
| it | Epilessia neonatale/infantile autolimitante | Convulsiomni neonatali-infantili famigliari benigne · SeLFNIE · SeLNE · BFNIS · Convulsioni benigne familiari neonatali-infantili · Epilessia neonatale-infantile benigna · Epilessia benigna familiare neonatale-infantile |
| nl | Zelflimiterende neonatale/infantiele epilepsie | BFNIS · Benigne familiaire neonatale-infantiele convulsies · Benigne familiaire neonatale-infantiele epileptische aanvallen · Goedaardige familiale neonatale-infantiele insulten · Goedaardige neonatale-infantiele epilepsie · SeLFNIE |
| pt | Convulsões benignas neonatais-infantis familiares | |
| pl | Samoograniczająca się padaczka noworodkowo-dziecięca | BFNIS · Łagodna padaczka noworodkowo-dziecięca |
| cs | Benigní familiární novorozenecké a infantilní křeče | BFNIS · Benigní novorozenecká a infantilní epilepsie |
| uk | Доброякісні сімейні неонатально-інфантильні судоми | Доброякісна неонатально-дитяча епілепсія · BFNIS |
| zh | 良性家族性新生儿-婴儿痉挛 | 良性新生儿-婴儿癫痫 |
| tr | Selim ailesel yenidoğan-infantil nöbetler | BFNIS · Selim yenidoğan-infantil epilepsi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607745 | NTBT | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0011904 | E | validated | |
| MONDO | 11904 | E | validated | |
| UMLS | C5671283 | E | validated | |
| GARD | 1518 | 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 (4):
- ORPHA:166475Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
rare genetic diseases; rare neurological diseases - ORPHA:693802Neonatal/infantile-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 - ORPHA:98744Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNQ2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6296 | ENSG00000075043 | 602235 | 20q13.33 | potassium voltage-gated channel subfamily Q member 2 | 23360469[PMID] |
| SCN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:10588 | ENSG00000136531 | 182390 | 2q24.3 | sodium voltage-gated channel alpha subunit 2 | 12243921[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | 15048894[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15048894[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.
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HPO phenotypes
15 annotations · validated 2023-01-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0011193 | EEG with focal spikes | |
| HP:0002266 | Focal clonic seizure | |
| HP:0032807 | Neonatal seizure | |
| HP:0032792 | Tonic seizure | |
| Occasional (29-5%) | ||
| HP:0002104 | Apnea | |
| HP:0002131 | Episodic ataxia | |
| HP:0002315 | Headache | |
| HP:0002018 | Nausea | |
| HP:0002172 | Postural instability | |
| HP:0001350 | Slurred speech | |
| HP:0025401 | Staring gaze | |
| HP:0002321 | Vertigo | |
| Very rare (<4-1%) | ||
| HP:0031491 | Continuous spike and waves during slow sleep | |
| HP:0001268 | Mental deterioration | |
Annotation source: 26645390[PMID]_28379373[PMID]_31904126[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140927
- This record as JSON: /data/d/140927.json