Results 281 to 290 of about 2,272,583 (371)

Serum Ammonia as a Biomarker to 
Differentiate Between True Epileptic and 
Psychogenic Non-epileptic Seizures: 
A Cross-sectional Study. [PDF]

Ann Neurosci
Puppala S, Pattnaik S, Acharya A, Sahoo S, Choudhury SS, Sirohi T.   +5 more
europepmc   +1 more source

MECP2 duplication syndrome—Typical EEG characteristics

Epileptic Disorders, EarlyView.
Walter Otu, Ritu Sudhakaran, German Garza‐Garcia, Krishna Parekh, Irfan S. Sheikh   +4 more
wiley   +1 more source

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures

Epilepsia Open, EarlyView.
Abstract The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as ...
Zhen Liu, Mei He, Xuan Luo, Hu Pan, Xiao Mao, Jinping Su   +5 more
wiley   +1 more source

Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome. [PDF]

Transl Psychiatry
Shao W, Liu L, Gu J, Yang Y, Wu Y, Zhang Z, Xu Q, Wang Y, Shen Y, Gu L, Cheng Y, Zhang H.   +11 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Middle-Aged Women With Rett Syndrome: Longitudinal Profile From the British Isles Rett Syndrome Survey and Suggestions for Care. [PDF]

J Appl Res Intellect Disabil
Hryniewiecka-Jaworska A, Sloper E, Archer H, Clarke AJ.   +3 more
europepmc   +1 more source

PAK3 pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism

Epilepsia Open, EarlyView.
Abstract Protein‐activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21‐activated kinases (PAKs) family of Ras‐signaling serine/threonine kinases. Pathogenic variants in the X‐linked gene PAK3 have been described in patients with neurodevelopmental syndromes.
Antonio Gambardella, Yu‐Chi Liu, Mark F. Bennett, Timothy E. Green, John A. Damiano, Francesco Fortunato, Matthew J. Coleman, Jacqueline Cherfils, Jean‐Vianney Barnier, Jozef Gecz, Melanie Bahlo, Samuel F. Berkovic, Michael S. Hildebrand   +12 more
wiley   +1 more source

Communicating a diagnosis of Dravet syndrome to parents/caregivers: An international Delphi consensus

Epilepsia Open, EarlyView.
Abstract Objective Dravet syndrome is a developmental and epileptic encephalopathy characterized by drug‐resistance, lifelong seizures, and significant comorbidities including intellectual and motor impairment. Receiving a diagnosis of Dravet syndrome is challenging for parents/caregivers, and little research has focused on how the diagnosis should be ...
Andreas Brunklaus, Susanne Schubert‐Bast, Francesca Darra, Katherine Nickels, Delphine Breuillard, Andrea Giuffrida, Claire Eldred, Silke Flege, Elena Cardenal‐Muñoz, Rocío Sánchez‐Carpintero   +9 more
wiley   +1 more source

Quantitative EEG signatures in patients with and without epilepsy development after a first seizure

Epilepsia Open, EarlyView.
Abstract Objective Diagnosing epilepsy after a first unprovoked seizure in the absence of visible epileptogenic lesions and interictal epileptiform discharges (IED) in the electroencephalogram (EEG) is challenging. Quantitative EEG analysis and functional connectivity (FC) have shown promise in identifying patterns across epilepsy syndromes.
Marysol Segovia‐Oropeza, Erik Hans Ulrich Rauf, Ev‐Christin Heide, Niels K. Focke   +3 more
wiley   +1 more source

Integrated analysis of proteomics and metabolomics in infantile epileptic spasms syndrome. [PDF]

Sci Rep
Chen J, Wang X, Rao X, Luo H, Shen Y, Gan J.   +5 more
europepmc   +1 more source