The first daughter of healthy non-consanguineous parents, with no history of epilepsy in first-degree relatives, started at 2 months of age, with right hemiclonic FC of 15 min duration, with posterior paresis.
Recurrences were frequent, of complex focal type and hemiclonic of more than 10 min with at least 5 febrile SE between 3 and 6 months, with a normal post crisis examination.
Brain MRI3 was normal, as well as multiple standard EEGs, quantification of amino acids in blood, cerebrospinal fluid, organic and ultramicry skin acids.
At 6 months, a molecular study of the SCN1A gene was requested, confirming a c.5347G>A mutation (p.Ala1783Thr) in a heterozygous state in exon 26 of the gene.
Molecular study of both parents was normal.
The use of fenobarbital, clobazam, levetiracetam and tomato did not achieve seizure control.
Nine months later, the patient was treated conservatively with 50 mg kp doses associated with cough and valproic acid.
Between 12-18 months, multiple SE and frequent crises deteriorated their development by losing gait, trunk control and control.
A ketogenic diet was initiated, which was associated with severe pancreatitis.
Disturbance certification and feverish recurrent respiratory symptoms caused by ES led to gastrostomy, which reduced febrile episodes and improved seizure management.
3 adecuate antiepileptic drug therapy with clobazam weekly tapering or lacosamide-free regimens allowed partial seizure control without SE for 18 months, with seizures or
