familial infantile myoclonic epilepsy
ORPHA: 352582
Overview
human disease
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 familial infantile myoclonic epilepsy, sourced from HPO and Orphanet clinical annotations.
SeizureGeneralized myoclonic seizureDysarthriaCerebellar atrophyThick cerebral cortexFocal-onset seizureSimple febrile seizureEEG with focal spike wavesBilateral tonic-clonic seizure with generalized onsetInterictal EEG abnormalityProptosisBlepharospasmDelayed speech and language developmentAtaxiaMild intellectual disabilityGlobal developmental delayMotor delayGait disturbanceBilateral tonic-clonic seizureClumsinessModerate intellectual disabilityBorderline intellectual disabilityAbnormal hippocampus morphologyPeriventricular nodular heterotopiaLimb myoclonus
Classification & Codes
Orphanet Code
ORPHA:352582familial infantile myoclonic epilepsy
| Orphanet | ORPHA:352582 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO