From: Genetic exploration of Dravet syndrome: two case report
Characteristics | Case 1 | Case 2 |
---|---|---|
Seizure onset | 3 months, triggered after immunization | 3 months, triggered after immunization |
Seizure type | Generalized tonic clonic seizures, absence seizure | Generalized tonic clonic seizures, myoclonic, and status epilepticus |
Family history | None | None |
Developmental | Global developmental delay | Global developmental delay |
Neurologic status | Normal | Increased physiological reflexes in all extremities |
Electroencephalography features | Diffuse epileptiform abnormality on a normal background | Abnormal epileptiform with a normal background |
Radiology | Head magnetic resonance imaging result: Cerebral atrophy, bilateral frontal subarachnoid enlargement, bilateral occipital lobe polymicrogyria, and neuroglial cyst in right temporal lobe | Head computed tomography scan result: Subdural hygroma in the bilateral frontoparietal region |
Genetic testing | Heterozygous deletion NC_000002.12:g.165811316_166364199delinsTGTACACTA at 2q24.3 spans across three genes (TTC21B, SCN1A, and SCN9A) | Heterozygous mutation in exon 9 of the SCN1A gene, c.4003-2A > G (p.?) |
Inheritance | Unknown | De novo |
Outcome | Seizure free for 3 months with valproic acid (40mg/kg per day), phenobarbital (2.5mg/kg per 12 hours), and (levetiracetam 27mg/kg per day), but later, the patient had generalized seizure induced by fever with duration less than 5 minutes. Electroencephalography evaluation showed epileptiform irritative abnormality still persisted | Seizure decreased to one seizure per year, with a less than 1 minute duration after given valproic acid (30 mg/kg weight per day) and clonazepam (0.04 mg/kg body weight per day) |