early infantile epileptic encephalopathy 23
ORPHA: 4119862 Treatments Available
Overview
early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31
Available Treatments (2)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Valproic Acid | Oral tablets 250mg, 500mg; Oral solution 250mg/5mL; IV infusion 100mg/mL | FDA Approved | 12 | 7d |
| Levetiracetam | Oral tablet 250mg, 500mg, 750mg, 1000mg; Oral solution 100mg/mL; IV infusion 500mg/5mL | FDA Approved, EMA Approved | 11 | 3d |
Clinical Presentation
Signs and symptoms associated with early infantile epileptic encephalopathy 23, sourced from HPO and Orphanet clinical annotations.
Low anterior hairlineBroad nasal tipAnteverted naresTelecanthusPeriorbital fullnessReduced eye contactIntellectual disabilityHypoplasia of the corpus callosumPoor speechGeneralized tonic seizureMultifocal epileptiform dischargesOccipital cortical atrophyHypoplasia of the ponsCerebral visual impairmentEverted lower lip vermilionShort philtrumNarrow foreheadBulbous noseProminent nasal bridgeLong eyelashesAnophthalmiaThick eyebrowSynophrysMotor stereotypyHypotoniaMyoclonusGeneralized non-motor (absence) seizureFocal impaired awareness seizureHypsarrhythmiaInability to walkLarge earlobeProminent ear helixAtonic seizureInfantile spasmsThick vermilion borderAbnormal spaced incisors
Classification & Codes
Orphanet Code
ORPHA:411986early infantile epileptic encephalopathy 23
| Orphanet | ORPHA:411986 |
| Treatments | 2 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO