ORPHA:1949
Self-limited neonatal epilepsy
Synonyms: BFNS · Benign familial neonatal convulsions · Benign familial neonatal epilepsy · Benign familial neonatal seizures · SeLNE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic epilepsy syndrome characterized by seizures onset typically in the first week of life, in otherwise healthy newborns, and usually resolving within the first year of life.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Self-limited neonatal epilepsy | BFNS · Benign familial neonatal convulsions · Benign familial neonatal epilepsy · Benign familial neonatal seizures · SeLNE |
| fr | Epilepsie néonatale autolimitée | BFNS · Convulsions néonatales bénignes familiales · Epilepsie néonatale bénigne familial · SeLNE |
| de | Selbstlimitierende neonatale Epilepsie | BFNE · BFNS · Benigne familiäre Neugeborenenepilepsie · Krampfanfälle, benigne neonatale, familiäre Form · Neugeborenenkrämpfe, benigne familiäre · SeLNE |
| es | Epilepsia neonatal autolimitada | Convulsiones benignas neonatales familiares · Crisis benignas neonatales familiares · Epilpesia benigna neonatal familiar |
| it | Epilessia neonatale autolimitante | Convulsioni neonatali familiari benigna · SeLNE · BFNS · Convulsioni neonatali familiari benigne · Epilessia neonatale familiare benigna |
| nl | Zelflimiterende neonatale epilepsie | BFNS · Goedaardige familiale neonatale convulsies · Goedaardige familiale neonatale epilepsie · Goedaardige familiale neonatale insulten · SeLNE |
| pt | Epilepsia neonatal auto-limitada | BFNS · Convulsões neonatais benignas familiares · Epilepsia neonatal benigna familiar · SeLNE |
| pl | Łagodna rodzinna padaczka noworodkowa | BFNS · Łagodne rodzinne drgawki noworodkowe · Łagodne rodzinne konwulsje noworodkowe |
| cs | Benigní familiární neonatální epilepsie | BFNS · Benigní idiopatické novorozenecké záchvaty · BFNCC · Benigní neonatální familiární křeče |
| uk | Доброякісна сімейна неонатальна епілепсія | Доброякісні сімейні неонатальні напади · Доброякісні сімейні неонатальні судоми · BFNS |
| zh | 良性家族性新生儿癫痫 | 良性家族性新生儿抽搐 |
| tr | Selim ailesel yenidoğan epilepsisi | BFNS · Selim ailesel yenidoğan nöbetleri · Selim ailesel yenidoğan konvülsiyonları |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 121200 | E | validated | |
| OMIM | 121201 | BTNT | validated | |
| OMIM | 269720 | BTNT | validated | |
| OMIM | 608217 | BTNT | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.0Y | NTBT | index | validated |
| MONDO | 0016027 | E | validated | |
| MONDO | 16027 | E | validated | |
| UMLS | C0220669 | E | validated | |
| GARD | 1519 | E | validated | |
| MedDRA | 10067866 | 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 (2):
- 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
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:64545Benign idiopathic neonatal seizures moved to · inactive
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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 | 20437616[PMID]_24375629[PMID] |
| KCNQ3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6297 | ENSG00000184156 | 602232 | 8q24.22 | potassium voltage-gated channel subfamily Q member 3 | 24851285[PMID]_24375629[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 272 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | 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
17 annotations · validated 2020-05-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011188 | Focal EEG discharges with secondary generalization | |
| HP:0002266 | Focal clonic seizure | |
| HP:0011167 | Focal tonic seizure | |
| HP:0007359 | Focal-onset seizure | |
| HP:0032807 | Neonatal seizure | |
| Frequent (79-30%) | ||
| HP:0002104 | Apnea | |
| HP:0032556 | Circumoral cyanosis | |
| HP:0002169 | Clonus | |
| HP:0011154 | Focal autonomic seizure | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0045084 | Limb myoclonus | |
| Occasional (29-5%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0011468 | Facial tics | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011171 | Simple febrile seizure | |
| Very rare (<4-1%) | ||
| HP:0031535 | Increased theta frequency activity in EEG | |
| HP:0002133 | Status epilepticus | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20437616[PMID]_31418850[PMID]_30782577[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1949
- This record as JSON: /data/d/1949.json