Second daughter, young non-consanguineous parents, first child died of a "meningitis", without additional data.
No history of epilepsy in first-degree relatives.
No perinatal morbidity.
It was evaluated for the first time at 18 months of age due to acute liver failure associated with valproic acid.
At 4 months she started "complex FC" treated with fenobarbital.
A year later, she had experienced 5 episodes of status feverish and multiple prolonged, myoclonic, hemi-generalized FC.
Her DSM was normal up to the year of life, as well as standard electroencephalogram (EEG) and magnetic resonance imaging (MRI) of the brain.
Seizures began one year later with refractory epilepsy and febrile seizures associated with seizures associated with regression of acquired psychomotor skills (marcha and language).
The examination revealed jaundice, microcephalia (circun cranequinan low percentile 2 of Nelhaus curves), absence of independent walking and expressive and comprehensive language delay.
Video-EEG monitoring identified focal electrical seizures with bilateral synchronous frontal interictal activity.
The metabolic studies (organic acids, amino acids in blood and cerebrospinal fluid CSF) and electronic skin mapping were normal.
Molecular study of the SCN1A gene detected a heterozygous c.3457G>T (p.Glu1153X) mutation in exon 17, confirming DS.
Molecular study of both parents was normal.
Epilepsy was partially controlled with erythematous urticaria; the latter was managed conservatively with fenobarbital, cough and clobazam.
Gastrostomy was performed due to abnormal findings associated with frequent pneumonia, which decreased the frequency of acute febrile episodes with decreased SE.
Her last follow-up at 6 years, with triad treatment, showed a child watched, with communicative language and independent walking, without ES from 2 years with a seizure frequency that decreased to 1-3 per week of seconds.
