Folinic acid-responsive seizures
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Folinic acid-responsive seizures | |
| fr | Convulsions sensibles à l'acide folinique | |
| de | Folinsäure-abhängige Anfälle | Folinsäure-abhängigen Krämpfe |
| es | Epilepsia sensible al ácido folínico | |
| it | Convulsioni sensibili all'acido folinico | |
| nl | Folinezuurresponsieve insulten | |
| pt | Convulsões sensíveis ao ácido folínico | |
| pl | Napady reagujące na kwas folinowy | |
| cs | Křeče reagující na folinát | |
| uk | Судоми, чутливі до фолінієвої кислоти | |
| zh | 亚叶酸反应性癫痫 | |
| tr | Folinik aside duyarlı nöbetler |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 5C59.Y | NTBT | index | validated |
| MONDO | 0019197 | E | validated | |
| UMLS | C4273952 | 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 (2):
- ORPHA:79219Metabolic disease involving other neurotransmitter deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
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.
HPO phenotypes
38 annotations · validated 2021-09-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0012446 | Decreased CSF 5-methyltetrahydrofolate concentration | |
| HP:0001263 | Global developmental delay | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0006808 | Cerebral hypomyelination | |
| HP:0012448 | Delayed myelination | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0040204 | Elevated CSF neopterin level | |
| HP:0001298 | Encephalopathy | |
| HP:0004302 | Functional motor deficit | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0002098 | Respiratory distress | |
| Occasional (29-5%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002104 | Apnea | |
| HP:0010819 | Atonic seizure | |
| HP:0002136 | Broad-based gait | |
| HP:0002072 | Chorea | |
| HP:0020221 | Clonic seizure | |
| HP:0002376 | Developmental regression | |
| HP:0001332 | Dystonia | |
| HP:0006892 | Frontotemporal cerebral atrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0000737 | Irritability | |
| HP:0000545 | Myopia | |
| HP:0000648 | Optic atrophy | |
| HP:0002465 | Poor speech | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002360 | Sleep abnormality | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0002133 | Status epilepticus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25274592[PMID]_24080039[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79097
- This record as JSON: /data/d/79097.json