Clinical and Electrical Features of Epileptic Encephalopathies of Suspected Genetic Origin: About 101 Patients From A Tunisian Cohort.

The objectives are to recognize Epileptic encephalopathies(EE) with suspected genetic etiology and to determine their clinical and electrical characteristics. Methods Retrospective study conducted in the Child Neurology Department of Hedi Chaker University Hospital. This study involved patients who were diagnosed with EE. The clinical and electroencephalographic data as well as the results of complementary examinations were reviewed. Results A total of 417 patients followed for epileptic encephalopathy of different etiologies were collected The clinical and electrical data allowed us to classify the patients into classical syndromes and non-specific EE. The data of the complementary examinations allowed to identify the group with probable genetic etiology. The etiologies were dominated by structural causes(27.8%)followed by metabolic causes(8.2%) The group of a suspected genetic etiology represented 24.2%. In this last group, West syndrome was the most frequent(39.6%), followed by non-specific EE (28.6%), Lennox Gastaut syndrome (12.9%) and Dravet syndrome (12.9%), Ohtahara syndrome(4%) and the epilepsy of infancy with migrating focal seizures (2%). The mean age of the onset of epilepsy was 11.3 months [Day 6-7 years]. The sex ratio was 1.1. Most of them were from the South of Tunisia. Consanguinity of parents was found in 43.6%. Family history of epilepsy was observed in 25.7%. A specific electrical pattern on the first EEG was recorded in 34.7% (35/101). Genetic confirmation was obtained in 12.9%(13/101) Conclusion The determination of the causative mutation allows to understand the pathophysiology of EE, to propose genetic counseling for families and to guide the choice of antiepileptic treatment.