[P3-54] Migrating partial epilepsy of infancy due to SCN2A mutation presenting on first day of life
Baby R developed her first seizure on day one of life, not associated with any symptomatic or remote aetiology. She presented initially weekly with clusters of brief focal seizures lasting between 20 to 60 seconds, with perioral automatisms, tonic extension of one upper limb and lower limb peddling movements. These occurred more than 50-100 times a day, frequency increasing over the 3rd and 4th weeks of life. The clinical semiology as well the electroencephalogram confirmed occurrence of seizures from both hemispheres. There were also seizures commencing in one hemisphere and spreading to the other within the seizure. By fifth week, the baby appeared encephalopathic with cessation of feeding and reduced movements.
Extensive evaluation for underlying aetiology was negative. Exome sequencing detected a de novo mutation in the SCN2A gene. Seizure frequency showed an initial response to Phenobarbitone and Phenytoin but did not sustain when the seizure frequency increased markedly. There was no response to pyridoxine, folinic acid, biotin and other regular anticonvulsants. Ketogenic diet nor steroids were tried due to small size and age of the baby. Since quinidine was not available, she was initially started on oral quinine starting from very low dose. No significant improvement in the seizure frequency noted. When quinidine was available, she was gradually placed on increasing doses. Bisoprolol given to counteract QT prolongation. When reached doses of 40-50 mg/kg/day of quinidine there was gradual reduction of seizure frequency followed by complete cessation of seizures around 6 weeks of commencement of quinidine therapy.
Extensive evaluation for underlying aetiology was negative. Exome sequencing detected a de novo mutation in the SCN2A gene. Seizure frequency showed an initial response to Phenobarbitone and Phenytoin but did not sustain when the seizure frequency increased markedly. There was no response to pyridoxine, folinic acid, biotin and other regular anticonvulsants. Ketogenic diet nor steroids were tried due to small size and age of the baby. Since quinidine was not available, she was initially started on oral quinine starting from very low dose. No significant improvement in the seizure frequency noted. When quinidine was available, she was gradually placed on increasing doses. Bisoprolol given to counteract QT prolongation. When reached doses of 40-50 mg/kg/day of quinidine there was gradual reduction of seizure frequency followed by complete cessation of seizures around 6 weeks of commencement of quinidine therapy.