neuronal ceroid lipofuscinosis 8 northern epilepsy variant
ORPHA: 19471 Treatment Available
Overview
human disease
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| brivaracetam Orphan | oral tablet, 10mg, 25mg, 50mg, 75mg, 100mg; oral solution, 10mg/mL; IV injection, 50mg/5mL | FDA Approved | 8 | 10d |
Clinical Presentation
Signs and symptoms associated with neuronal ceroid lipofuscinosis 8 northern epilepsy variant, sourced from HPO and Orphanet clinical annotations.
Gastrostomy tube feeding in infancyT2 hypointense thalamusHyperintensity of cerebral white matter on MRIVisual impairmentIntellectual disabilitySeizureCerebellar atrophyInability to walkIntracellular accumulation of autofluorescent lipopigment storage materialVascular granular osmiophilic material depositionProgressive visual lossOptic disc pallorUndetectable electroretinogramDelayed speech and language developmentAtaxiaCerebral atrophyGait ataxiaGeneralized myoclonic seizureAbnormal speech patternClumsinessUnsteady gaitMotor deteriorationLoss of speechSpastic tetraplegiaCurvilinear intracellular accumulation of autofluorescent lipopigment storage materialFingerprint intracellular accumulation of autofluorescent lipopigment storage materialDifficulty standingEEG with generalized epileptiform dischargesEEG with abnormally slow frequenciesAbnormality of pattern visual evoked potentialsMotor regressionCognitive impairmentAtypical behaviorDementiaAutistic behaviorGlobal developmental delayDysphagiaFrequent fallsFocal impaired awareness seizure
Classification & Codes
Orphanet Code
ORPHA:1947neuronal ceroid lipofuscinosis 8 northern epilepsy variant
| Orphanet | ORPHA:1947 |
| Treatments | 1 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO