Results 1 to 10 of about 25,398 (119)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM [PDF]

Annals of Clinical and Translational Neurology
Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and ...
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
doaj   +2 more sources

Preliminary Study About A Significant and Treatable Cause of Epileptic Encephalopathy: GRIN2D Mutation

Acta Medica Alanya, 2021
Aim: The GRIN2D gene mutation causes severe forms of epileptic encephalopathy. NMDAR antagonists and magnesium sulfate could be useful as adjunctive therapy to control seizures in individuals with GRIN2D encephalopathy.
Nadide Cemre Randa, Gültekin Kutluk
doaj   +1 more source

Clinical features of developmental and epileptic encephalopathy caused by KCNQ2 gene mutation

Эпилепсия и пароксизмальные состояния, 2023
Current classification of epileptic syndromes proposed in 2022 by the International League Against Epilepsy, developmental and epileptic encephalopathy (DEE) caused by mutation in the KCNQ2 gene is identified as an independent nosological form ...
А. G. Malov, Т. P. Kalashnikova, N. А. Vdovina   +2 more
doaj   +1 more source

Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes. [PDF]

PLoS ONE, 2014
We apply a novel gene expression network analysis to a cohort of 182 recently reported candidate Epileptic Encephalopathy genes to identify those most likely to be true Epileptic Encephalopathy genes.
Karen L Oliver, Vesna Lukic, Natalie P Thorne, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo   +5 more
doaj   +1 more source

Clinical and Genetic Spectrum of Encephalopathy in the Korean Pediatric Population [PDF]

Annals of Child Neurology, 2021
Purpose Syntaxin-binding protein 1 (STXBP1) mutations are known to result in various phenotypes including Ohtahara syndrome, West syndrome, and autism, collectively referred as STXBP1 encephalopathy.
Woo Joong Kim, Young Kyu Shim, Young Jun Ko, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae   +9 more
doaj   +1 more source

Functional Connectivity Derived From Electroencephalogram in Pharmacoresistant Epileptic Encephalopathy Using Cannabidiol as Adjunctive Antiepileptic Therapy

Frontiers in Behavioral Neuroscience, 2021
To explore brain function using functional connectivity and network topology derived from electroencephalogram (EEG) in patients with pharmacoresistant epileptic encephalopathy with cannabidiol as adjunctive antiepileptic treatment.
Lilia Maria Morales Chacón, Lidice Galan García, Sheyla Berrillo Batista, Judith González González, Abel Sánchez Coroneaux   +4 more
doaj   +1 more source

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

Molecular Genetics & Genomic Medicine, 2023
Background SYNJ1 encodes Synaptojanin‐1, a dual‐function poly‐phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics.
Mary Maj, Christie L. Taylor, Kevin Landau, Helga V. Toriello, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Beverly Nelson, Sarah Gluschitz, Ruth H. Walker, Andrew K. Sobering   +10 more
doaj   +1 more source

Clinical and Electrophysiological Differentiation between Periodical and Epileptic Discharges

Journal of Neuroanaesthesiology and Critical Care, 2020
Clinical differentiation between nonconvulsive status epilepticus (NCSE) and encephalopathy remains challenging. Some patients with encephalopathy exhibit periodic discharges on electroencephalography. In certain cases, however, it is rather difficult to
Vitaliy V. Podlepich, Ivan A. Savin
doaj   +1 more source

Neuraxial block anesthetic technique in a patient with SCN8A encephalopathy: case report

Brazilian Journal of Anesthesiology, 2022
Mutations in SCN8A gene lead to changes in sodium channels in the brain, which are correlated with severe epileptic syndrome. Due to the rarity, there are few studies that support anesthesia in that population.
Eric Guimar.·es Machado, Isis da Rocha Costa Bill.., Mariana Moraes Pereira das Neves Ara..jo, Jos.. Francisco Nunes Pereira das Neves, Gilson Lorena Mau..s, Marco Felipe Bouzada Marcos, Fernando de Paiva Ara..jo   +6 more
doaj   +1 more source

Autism spectrum disorder and epileptic encephalopathy: common causes, many questions

Journal of Neurodevelopmental Disorders, 2017
Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that are the hallmarks of autism spectrum ...
Siddharth Srivastava, Mustafa Sahin
doaj   +1 more source