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Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross-Sectional Study and Systematic Literature Review - Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered "cardinal" signs of the disease. In a multicenter cross-sectional study, we analyzed the genetic, epileptological, behavioral, and neuroradiological feature...

On-demand seizures facilitate rapid screening of therapeutics for epilepsy - Animal models of epilepsy are critical in drug development and therapeutic testing. However, dominant methods for evaluating epilepsy treatments face a tradeoff between higher throughput and etiological relevance. Screening models are either based on acutely induced seizures in wild-type, naive animals or spontaneous seizures in chronically epileptic animals. Each has its disadvantages - acute ...

Labour of Love: A Sequential Exploratory Mixed-Methods Study on the Impact of Caring for a Child With Dravet Syndrome - CONCLUSIONS: Parental distress is high, especially for those parenting a child with DS and behavioural difficulties. Effective management of these issues and enhancing empowerment can improve overall family well-being.

When a Seizure Affects the Lungs: Recurrent Postictal Neurogenic Pulmonary Edema in an Adolescent-A Case Report - No abstract

Management of a First Non-febrile Convulsive Seizure in the Pediatric Emergency Department: A Retrospective Study From 2015 to 2021 at the University Hospital of Reims - CONCLUSIONS: In children presenting with a first non-febrile convulsive event, epileptic seizures accounted for a substantial proportion of cases, while non-epileptic events remained frequent. Clinical history and witness description were the most informative elements for diagnosis, whereas routine laboratory testing had limited utility. EEG and neuroimaging were valuable in selected cases. The...

Anesthetic Challenges in Debulking Surgery of Massive Plexiform Neurofibroma With Neurofibromatosis Type 1: A Case Report of Intraoperative Generalized Involuntary Movements and Severe Blood Loss - Neurofibromatosis type 1 is a multisystem genetic disorder commonly associated with plexiform neurofibromas, benign but highly vascular tumors that present significant perioperative challenges. Surgical debulking of plexiform neurofibromas is often associated with difficult anesthetic management due to tumor vascularity, hemorrhage risk, airway considerations, and the need for intraoperative ne...

Science Daily

Brain signal irregularity may provide clues to understanding epileptic process - Researchers propose a new method to differentiate signals from the epileptic focus from those recorded in other parts of the brain without the presence of an epileptic seizure. This technique may help detect epilepsy-induced features from these signals much quicker than conventional analysis techniques.

Breakthrough tech enables seizure localization in minutes - New research introduces a novel network analysis technology that uses minimally invasive resting state electrophysiological recordings to localize seizure onset brain regions and predict seizure outcomes in just 10 minutes.

Antidepressant use during pregnancy not linked to epilepsy in children - A new study suggests that antidepressant use by mothers during the first trimester of pregnancy does not increase the chances of epilepsy and seizures in babies.

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