Developmental outcome of electroencephalographic findings in encephalopathy.

haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals.

Pre-surgical evaluation challenges and long-term outcome in children operated on for Low Grade Epilepsy Associated brain Tumors.

Objetive: Analyze pre-surgical evaluation modalities, surgical failures, long-term results of surgery and neurocognitive outcome in children with Low-grade Epilepsy Associated brain Tumors (LEAT).

Methods: Retrospective observational study of 37 children who underwent epilepsy surgery, with a minimum follow-up of 12 months. At time of surgery, pharmaco-sensitivity (Group 1; n = 8) and drug-resistance (Group 2; n = 29), were considered.

Robot-assisted, real-time, MRI-guided laser interstitial thermal therapy for pediatric patients with hypothalamic hamartoma: surgical technique, pitfalls, and initial results.

Objective: Real-time, MRI-guided laser interstitial thermal therapy (MRgLITT) has been reported as a safe and effective technique for the treatment of epileptogenic foci in children and adults. After the recent approval of MRgLITT by the European Medicines Agency in April 2018, the authors began to use it for the treatment of hypothalamic hamartomas (HHs) in pediatric patients with the assistance of a robotic arm. In this study, the authors report their initial experience describing the surgical technique, accuracy of the robotic arm, safety, and efficacy.

Frameless robot-assisted stereoelectroencephalography for refractory epilepsy in pediatric patients: accuracy, usefulness, and technical issues.

Background: Stereoelectroencephalography (SEEG) is an effective technique to help to locate and to delimit the epileptogenic area and/or to define relationships with functional cortical areas. We intend to describe the surgical technique and verify the accuracy, safety, and effectiveness of robot-assisted SEEG in a newly created SEEG program in a pediatric center. We focus on the technical difficulties encountered at the early stages of this program.

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Background: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype.

Methods: Clinical data from an international cohort of 155 AHC patients (84 females, 71 males; between 3 months and 52 years) were gathered using a specifically formulated questionnaire and analysed relative to the mutational ATP1A3 gene data for each patient.

[Experience with ketogenic diet as treatment for refractory epilepsy].

Introduction: Epilepsy is a disease where most patients have a good control with pharmacological antiepileptic treatment. Nevertheless, 25% of the patients have a refractory epilepsy to usual antiepileptic drugs. Ketogenic diet is one of the treatment options for this type of epilepsy.