Third daughter, pregnancy and normal delivery, with no history of epilepsy in first-degree relatives.
The patient started FC at 6 months, which was prolonged, focal, and had normal heterosymptomatic and heterosympathetic EEG patterns.
Ten months later, she was afflicted with seizures but gates due to infections.
A year later, he persisted with multiple hemigeneralized afferent seizures, myoclonic seizures, seizures and generalized tonic seizures precipitated by photostimulation.
Between the first and second year, 7 ES required admission to the intensive care unit and 10 hospitalizations for prolonged crises.
Phenobarbital triad, valproic acid and levetiracetam did not achieve seizure control.
Brain MRI and metabolic studies were normal.
Pathological features included language delay, minor motor impairment and microcephalia.
At the age of 3 years, a molecular study of the SCN1A gene was requested, which confirmed the mutation c.3311C>A (p.Ser1104X) exon 16 in a heterozygous state for the gene.
Molecular study of both parents was normal.
Treatment with tomato, clobazam and taperacetam allowed control of prolonged seizures.
No ES for 9 months but has persisted with 5-7 short weekly seizures that do not require benzodiazepines.
