ORPHA:306
Self-limited infantile epilepsy
Synonyms: BFIE · BFIS · Benign familial infantile convulsions · Benign familial infantile epilepsy · Benign familial infantile seizures · SeLIE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare genetic epilepsy syndrome characterized by repeated brief focal seizures occurring between 3 and 20 months of age, typically peaking around 6 months.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Self-limited infantile epilepsy | BFIE · BFIS · Benign familial infantile convulsions · Benign familial infantile epilepsy · Benign familial infantile seizures · SeLIE |
| fr | Epilepsie infantile autolimitée | BFIE · BFIS · Convulsions infantiles familiales bénignes · EIFB · Epilepsie infantile familiale bénigne · SeLIE · Epilepsie autolimitée de l'enfance |
| de | Selbstlimitierende infantile Epilepsie | BFIE · BFIS · Benigne familiäre Epilepsie des Kindesalters · Benigne familiäre infantile Krampfanfälle · SeLIE |
| es | Epilepsia infantil autolimitada | Convulsiones benignas infantiles familiares · Crisis benignas infantiles familiares · Epilepsia benigna infantil familiar · SeLIE |
| it | Epilessia infantile autolimitante | Epilessia infantile familiare benigna · SeLIE · BFIE · BFIS · Convulsioni infantili familiari benigne · Crisi infantili familiari benigne |
| nl | Zelflimiterende infantiele epilepsie | BFIE · BFIS · Benigne familiaire infantiele epilepsie · Goedaardige familiale infantiele convulsies · Goedaardige familiale infantiele epilepsie · Goedaardige familiale infantiele insulten · SeLIE |
| pt | Epilepsia infantil auto-limitada | BFIS · BFIE · Convulsões benignas infantis familiares · Epilepsia benigna infantil familiar · SeLIE |
| pl | Samoograniczająca się padaczka niemowlęca | BFIE · BFIS · Łagodne rodzinne drgawki dziecięce · Łagodne rodzinne konwulsje dziecięce |
| cs | Benigní familiární infantilní epilepsie | BFIE · BFIS · Benigní familiární infantilní záchvaty · Benigní familiární infantilní křeče |
| uk | Доброякісна сімейна інфантильна епілепсія | Доброякісні сімейні дитячі напади · Доброякісні сімейні дитячі судоми · BFIE · BFIS |
| zh | 良性家族性婴幼儿癫痫 | 良性家族性婴儿惊厥 |
| tr | Selim ailesel infantil epilepsi | BFIE · BFIS · Selim ailesel infantil nöbetler · Selim ailesel infantil konvülsiyonlar |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601764 | BTNT | validated | |
| OMIM | 602066 | BTNT | validated | |
| OMIM | 605751 | BTNT | validated | |
| OMIM | 607745 | BTNT | validated | |
| OMIM | 612627 | BTNT | validated | |
| OMIM | 617080 | BTNT | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.10 | E | specific | validated |
| MONDO | 0017615 | E | validated | |
| UMLS | C5575231 | E | validated | |
| GARD | 857 | 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 (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.
Codes that Orphanet moved or referred to this one:
- ORPHA:31709Infantile convulsions and choreoathetosis moved to · inactive
- ORPHA:166295Benign non-familial infantile seizures moved to · inactive
- ORPHA:166299Benign partial epilepsy of infancy with complex partial seizures moved to · inactive
- ORPHA:166302Benign partial epilepsy with secondarily generalized seizures in infancy moved to · inactive
- ORPHA:166308Benign infantile focal epilepsy with midline spikes and waves during sleep moved to · inactive
- ORPHA:166311Benign partial infantile seizures moved to · inactive
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCN8A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10596 | ENSG00000196876 | 600702 | 12q13.13 | sodium voltage-gated channel alpha subunit 8 | 26677014[PMID] |
| KCNQ2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6296 | ENSG00000075043 | 602235 | 20q13.33 | potassium voltage-gated channel subfamily Q member 2 | |
| KCNQ3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6297 | ENSG00000184156 | 602232 | 8q24.22 | potassium voltage-gated channel subfamily Q member 3 | 23360469[PMID] |
| PRRT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30500 | ENSG00000167371 | 614386 | 16p11.2 | proline rich transmembrane protein 2 | 22243967[PMID]_22399141[PMID]_22623405[PMID] |
| SCN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:10588 | ENSG00000136531 | 182390 | 2q24.3 | sodium voltage-gated channel alpha subunit 2 | 23360469[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 14.2 / 100 000 | United Kingdom | Value and class | 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
34 annotations · validated 2025-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0032807 | Neonatal seizure | |
| HP:0002372 | Normal interictal EEG | |
| Frequent (79-30%) | ||
| HP:0002104 | Apnea | |
| HP:0002305 | Athetosis | |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0002072 | Chorea | |
| HP:0001266 | Choreoathetosis | |
| HP:0001332 | Dystonia | |
| HP:0002266 | Focal clonic seizure | |
| HP:0032755 | Focal impaired awareness autonomic seizure | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011153 | Focal motor seizure | |
| HP:0011167 | Focal tonic seizure | |
| HP:0007359 | Focal-onset seizure | |
| HP:0011169 | Generalized clonic seizure | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0004305 | Involuntary movements | |
| HP:0007166 | Paroxysmal dyskinesia | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0011172 | Complex febrile seizure | |
| HP:0000961 | Cyanosis | |
| HP:0012002 | Experiential epileptic aura | |
| HP:0032678 | Eyelid myoclonia seizure | |
| HP:0032906 | Focal head nodding automatism seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001276 | Hypertonia | |
| HP:0045084 | Limb myoclonus | |
| HP:0032823 | Neonatal electro-clinical seizure with behavior arrest | |
| Very rare (<4-1%) | ||
| HP:0011182 | Interictal epileptiform activity | |
| HP:0011171 | Simple febrile seizure | |
| HP:0002133 | Status epilepticus | |
| Excluded (0%) | ||
| HP:0410263 | Brain imaging abnormality | |
| HP:0002361 | Psychomotor deterioration | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 29334453[PMID]_29764460[PMID]_26598493[PMID]_25658216[PMID]_24370076[PMID]_29334453[PMID]_29285950[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306
- This record as JSON: /data/d/306.json