folinic acid-responsive seizures
ORPHA: 79097
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with folinic acid-responsive seizures, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceSeizureAtaxiaGlobal developmental delayDecreased CSF 5-methyltetrahydrofolate concentrationAtypical behaviorAutistic behaviorCerebellar atrophyEncephalopathyRespiratory distressAbdominal distentionFunctional motor deficitCerebral hypomyelinationMultifocal epileptiform dischargesEEG with generalized slow activityDelayed myelinationElevated CSF neopterin levelSensorineural hearing impairmentMyopiaOptic atrophyIrritabilityHypertoniaSpastic tetraparesisDystoniaHyperreflexiaChoreaApneaGeneralized myoclonic seizureStatus epilepticusBroad-based gaitSleep disturbanceDevelopmental regressionPoor speechHypsarrhythmiaFrontotemporal cerebral atrophyAtonic seizureClonic seizureAbnormality of movement
Classification & Codes
Orphanet Code
ORPHA:79097folinic acid-responsive seizures
| Orphanet | ORPHA:79097 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO