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Female preponderance in genetic generalized epilepsies
Videira, Gonçalo; Gabriel, Denis; Freitas, Joel; Samões, Raquel; Chorão, Rui; Lopes, João; Ramalheira, João; Ramalheira, João E.P.; Lemos, CarolinaIntroduction: Epilepsy is more prevalent in men but Genetic Generalized Epilepsies (GGE) seem to be more common in women. A predominant maternal inheritance has been previously described in GGE. Our objective was to determine sex and inheritance patterns in a GGE population compared to mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS). Methods: We performed a prospective observational study incl...
Loss of Awareness after Continuous Apomorphine Infusion Withdrawal in Parkinson...
Oliveira, Vanessa; Videira, Gonçalo; Mendes, Alexandre
Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Series
Videira, Gonçalo; Malaquias, Maria João; LARANJINHA, INES; Martins, Ricardo; Taipa, Ricardo; Magalhães, MarinaIntroduction: Aicardi-Goutières syndrome (AGS) is a genetic disease presenting with early-onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. Methods: AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed. Results: A total of 5 patients and 1 asymptomatic ...
Prevalence of Autonomic Dysfunction in Patients with Multiple Sclerosis
Vieira, Bitia; Costa, Andreia; Videira, Gonçalo; Sá, Maria José; Abreu, PedroBackground: Autonomic nervous system dysfunction is commonly seen in multiple sclerosis patients and should be explored in the routine evaluation. Composite Autonomic Symptom Score questionnaire was validated as a self-assessment instrument of autonomic symptoms.Objectives: Determine the frequency of autonomic symptoms in multiple sclerosis patients through a Portuguese version of Composite Autonomic Symptom Sc...