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Sulfite Oxidase Deficiency – An Unusual Late and Mild Presentation

Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of S...

Feasibility of Focal Transcranial DC Polarization with Simultaneous EEG Recordi...

We aimed to investigate the feasibility of an experimental system for simultaneous transcranial DC stimulation(tDCS) and EEG recording in human epilepsy. We report tolerability of this system in a cross-over controlled trial with 15 healthy subjects and preliminary effects of its use, testing repeated tDCS sessions, in two patients with drug-refractory Continuous Spike-Wave Discharges During Slow Sleep (CSWS). ...

Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Dro...

Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studi...

Epilepsia de Ausências: Caracterização Cognitiva de um Grupo de Crianças e Adol...

Origin of Frontal Lobe Spikes in the Early Onset Benign Occipital Lobe Epilepsy...

Objective: Early onset benign occipital lobe epilepsy (Panayiotopoulos syndrome [PS]) is a common and easily recognizable epilepsy. Interictal EEG spike activity is often multifocal but most frequently localized in the occipital lobes. The origin and clinical significance of the extra-occipital spikes remain poorly understood. Methods: Three patients with the PS and interictal EEG spikes with frontal lobe topog...

Analysis of the Dynamics and Origin of Epileptic Activity in Patients with Tube...

Objective: The epilepsies associated with the tuberous sclerosis complex (TSC) are very often refractory to medical therapy. Surgery for epilepsy is an effective alternative when the critical link between the localization of seizure onset in the scalp and a particular cortical tuber can be established. In this study we perform analysis of ictal and interictal EEG to improve such link. Methods: The ictal and int...

Encefalopatias Neonatais Com Padrão de Surto-Supressão: Casuística de Dois Anos...

Mapeamento Funcional por EEG e Ressonância Magnética Funcional na Avaliação par...

0 Impacto da lnvestigação Neurofisiológica na Referenciação para Cirurgia da Ep...

Analysis of the Generators of Epileptic Activity in Early-Onset Childhood Benig...

Objective: The Panayiotopoulos type of idiopathic occipital epilepsy has peculiar and easily recognizable ictal symptoms, which are associated with complex and variable spike activity over the posterior scalp areas. These characteristics of spikes have prevented localization of the particular brain regions originating clinical manifestations. We studied spike activity in this epilepsy to determine their brain g...