Abstract

Background: Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) is an early epileptic encephalopathy with a poor prognosis. Patient description: The patient is a 3 years-old male who presented focal and migrating seizures since the first months of life. Serial Video-Electroencephalogram (video-EEG) showed a progressive slowing of background activity and multifocal discharges. Numerous anticonvulsant drugs were tested without success. Whole Exome Sequencing (WES) revealed a heterozygous, de novo, missense mutation in KCNT1 (c. 1429G>A; p.Ala477Thr). At seven months old quinidine treatment was beginning. At that time, he had more than 20 seizures per day. Progressively the dose was increased according to plasma levels. After two months he had 2-4 seizures per day and showed a slight improvement in his social and motor development.
Conclusion: EIMFS is a devastating condition to lead to an encephalopathic syndrome in a large majority of cases. Seizure control, particularly in early phases of the syndrome, may improve outcomes. The onset of quinidine treatment in early stages of development helps to improve seizures control and neurodevelopmental disabilities