Results 61 to 70 of about 149,294 (247)
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine
GenesInfantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) consisting of epileptic spasms, as well as one or both of developmental regression or stagnation and hypsarrhythmia on EEG.
Hannah E. Snyder +4 more
semanticscholar +1 more source
Comput. Methods Programs Biomed., 2023 BACKGROUND AND OBJECTIVE Epilepsy is a brain disorder consisting of abnormal electrical discharges of neurons resulting in epileptic seizures. The nature and spatial distribution of these electrical signals make epilepsy a field for the analysis of brain
Alberto Nogales +3 more
semanticscholar +1 more source
Frontiers in NeuroscienceObjectiveTo explore the genotypic spectrum and refine the genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy (DEE).Methodswhole-exome sequencing or whole-genome sequencing was performed to all patients.
Ting Wang +9 more
doaj +1 more source
A guide to neuromodulation in drug‐resistant epilepsy
Epileptic Disorders, EarlyView.Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh +10 more
wiley +1 more source
Delayed brain and spine migration of a retained SEEG electrode fragment: An unexpected complication
Epileptic Disorders, EarlyView.Abstract Background Stereoelectroencephalography (SEEG) is a well‐established technique for localizing epileptogenic zones in patients with drug‐resistant epilepsy, including children. While considered safe, rare but serious complications can occur.
Manel Krouma +7 more
wiley +1 more source
The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy
Epilepsia Open, 2023 Objective ST3GAL3‐related developmental and epileptic encephalopathy (DEE‐15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy.
Robyn Whitney +6 more
doaj +1 more source
Pallister—Killian syndrome: an unusual cause of epileptic spasms [PDF]
Developmental Medicine & Child Neurology, 2005 Pallister‐Killian syndrome (PKS) is a rare, sporadic, genetic disorder characterized by dysmorphic features, learning disability *, and epilepsy. It is caused by a mosaic supernumerary isochromosome 12p (i[12p]). The i(12p) is rarely found in peripheral blood but it is present in skin fibroblasts. Recognition is essential for cytogenetic diagnosis.
Rocio, Sánchez-Carpintero +7 more
openaire +2 more sources
Epileptic Disorders, EarlyView.Abstract Objective Hypsarrhythmia is the classical EEG pattern of children with infantile epileptic spasms syndrome (IESS). Multifocal spikes, slow waves of large amplitude, and chaoticity are its main characteristics, but these lack clear definitions, and the interrater reliability (IRR) is poor.
T. P. Cramer +4 more
wiley +1 more source