folinic acid-responsive seizures
MONDO:0019197Mondo
Findings
No curated finding names folinic acid-responsive seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0019197), read 2026-09-29. CC BY 4.0.
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Decreased CSF 5-methyltetrahydrofolate concentrationHPOHP:0012446
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Cerebral hypomyelinationHPOHP:0006808
- Frequent (30% to 79% of cases)
- Delayed myelinationHPOHP:0012448
- Frequent (30% to 79% of cases)
- EEG with generalized slow activityHPOHP:0010845
- Frequent (30% to 79% of cases)
- Elevated CSF neopterin levelHPOHP:0040204
- Frequent (30% to 79% of cases)
Show the remaining 26
- EncephalopathyHPOHP:0001298
- Frequent (30% to 79% of cases)
- Functional motor deficitHPOHP:0004302
- Frequent (30% to 79% of cases)
- Multifocal epileptiform dischargesHPOHP:0010841
- Frequent (30% to 79% of cases)
- Respiratory distressHPOHP:0002098
- Frequent (30% to 79% of cases)
- Abnormality of movementHPOHP:0100022
- Occasional (5% to 29% of cases)
- ApneaHPOHP:0002104
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: folinic acid-responsive seizures
- Also called
- Folinic acid responsive seizures