cortical dysplasia-focal epilepsy syndrome
ORPHA: 163681
Overview
brain disease characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has material basis in homozygous or compound heterozygous mutation in the CNTNAP2 gene on chromosome 7q35-q36
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 cortical dysplasia-focal epilepsy syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentSeizureAbnormality of neuronal migrationFocal-onset seizureAbnormal neuron morphologyDelayed ability to walkGlobal developmental delayMental deteriorationMotor delayPoor speechProgressive language deteriorationBilateral tonic-clonic seizure with focal onsetEEG with generalized slow activitySevere intellectual disabilityInterictal epileptiform activityEEG with generalized epileptiform dischargesEEG with generalized polyspikesHypertelorismDownslanted palpebral fissuresNystagmusAtypical behaviorAutismAggressive behaviorSelf-mutilationLow frustration toleranceHyperactivityReduced eye contactPrecocious pubertyAtaxiaHypotoniaHyporeflexiaAreflexiaAbsent speechObesityPes cavusLower limb spasticityHepatomegalyModerate intellectual disabilityIntermittent hyperventilationCerebellar vermis atrophyPeriventricular leukomalaciaReceptive language delayEEG with focal spikesFeeding difficultiesSkin-pickingStereotypical hand wringingAbnormal temper tantrumsCerebral palsyPreaxial polydactyly
Classification & Codes
Orphanet Code
ORPHA:163681cortical dysplasia-focal epilepsy syndrome
| Orphanet | ORPHA:163681 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO