Abstracts

Rationale: Dravet syndrome (DS) is an epileptic syndrome of infantile onset associated with SCN1A mutations and is characterized by frequent seizures and severe cognitive impairment. Neurological decline occurred in adulthood with cognitive and motor deterioration. The aim of our study was to analyze postural troubles related to cerebellar dysfunction in adult DS.Methods: Twelve adult patients, 6 DS caused by SCN1A mutations and 6 Lennox Gastaut syndrome (LGS) were recruited. Clinical, biological and electroencephalographical data were collected. Postural control and coordination dysfunction were evaluated using Tinetti scale, Berg Balance and SARA evaluation. Static postural scores were evaluated under standard conditions using Satel and Framiral posturography. Oculographic testing and brain MRI were performed.Results: Clinical, molecular, and electroencephalographical data for all patients are summarized in Table 1 and 2. Tinetti, Berg Balance and SARA scales evidenced a significant statistical difference (p<0.05) between both DS and LGS patients. Length and amplitude reported in Satel s posturography in static condition with eye open are statistically different (p<0.05) between both groups of patients. Framiral s posturography 3D mapping data demonstrate that DS patients spend more energy to avoid risk fall. Only patient D1 has hypermetria in horizontal eyes jerk. No significant Brain MRI was without special features in both group.Conclusions: Our data suggest that DS linked to SCN1A mutation develop postural disability in course of disease related to cerebellar dysfunction. Motor impairment seems not related to adverse antiepileptic drugs effects or to epileptic activity but may be related to disease worsening.