Results 111 to 120 of about 15,320 (235)

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, EarlyView.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

Estudio clínico-genético de pacientes cubanos con síndrome de West Clinical and genetic studies in Cuban patients suffering from West syndrome

Revista de Ciencias Médicas de Pinar del Río, 2012
El síndrome de West constituye una encefalopatía epiléptica asociada a una amplia diversidad de factores causales, cuyas bases genéticas hasta el momento no se han estudiado en Cuba. Con el objetivo de describir las principales características clínicas y
Anitery Travieso Téllez, Araceli Lantigua Cruz, Ramiro García García   +2 more
doaj  

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

Clinical Genetics, EarlyView.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman, Sara Via Dorembus, Omer Shlomovitz, Shoshana Greenberger, Einat Lahav, Sharon Mini‐Goldberger, Michal Tzadok   +6 more
wiley   +1 more source

Video-EEG in Infantile Spasms

Pediatric Neurology Briefs, 2001
Early electroclinical manifestations and treatment responses were evaluated by video-EEG in 44 infants with infantile spasms.
J Gordon Millichap
doaj   +1 more source

The hairy elbows syndrome: clinical and neuroradiological findings. [PDF]

, 2008
The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces.
CORSELLO, Giovanni, DI PACE, Maria Rita, DIDATO, Maria Angela, FONTANA, Antonina, MANGANO, Salvatore, NARDELLO, Rosaria, TRIPI, Gabriele   +6 more
core  

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish. [PDF]

, 2016
Mutations in the synaptic machinery gene syntaxin-binding protein 1, STXBP1 (also known as MUNC18-1), are linked to childhood epilepsies and other neurodevelopmental disorders.
Baraban, Scott C, Grone, Brian P, Hamling, Kyla R, Krasniak, Christopher S, Kumar, Maneesh G, Marchese, Maria, Patel, Manisha, Santorelli, Filippo M, Sicca, Federico   +8 more
core   +2 more sources

Global, regional and national burden of epilepsy in children and adolescents, 1990–2021: A systematic analysis for the Global Burden of Disease Study 2021

European Journal of Clinical Investigation, EarlyView.
Globally, in 2021, there were 18.15 million prevalent cases of epilepsy in children and adolescents (8.24 and 9.91 million of idiopathic and secondary epilepsy, respectively). Between 1990 and 2021, the prevalence rate of secondary epilepsy increased by 16.14%, with especially high increases attributable to neonatal encephalopathy, neonatal jaundice ...
Yun Seo Kim, Min Seo Kim, Seoyeon Park, Lee Smith, Joaquim Radua, Sarah Soyeon Oh, Stefania I. Papatheodorou, Hoon‐Chul Kang, Ara Ko, Dong Keon Yon, Jae Il Shin   +10 more
wiley   +1 more source

ACTH in Infantile Spasms

Pediatric Neurology Briefs, 1990
The relationship between dose of ACTH and the initial effect and long-term prognosis was investigated in 41 children with infantile spasms at the Department of Pediatrics, Kyoto University, Kyoto, Japan.
J Gordon Millichap
doaj   +1 more source

Absence seizures and sleep–wake abnormalities in a rat model of GRIN2B neurodevelopmental disorder

Epilepsia, EarlyView.
Abstract Objective Pathogenic mutations in GRIN2B are an important cause of severe neurodevelopmental disorders resulting in epilepsy, autism, and intellectual disability. GRIN2B encodes the GluN2B subunit of N‐methyl‐d‐aspartate receptors (NMDARs), which are ionotropic glutamate receptors critical for normal development of the nervous system and ...
Katerina Hristova, Melissa C. M. Fasol, Niamh McLaughlin, Mohammad Sarfaraz Nawaz, Mehmet Taskiran, Ingrid Buller‐Peralta, Anjanette P. Harris, Andrew Sutherland, Alejandro Bassi, Adrian Ocampo‐Garces, Javier Escudero, Peter C. Kind, Alfredo Gonzalez‐Sulser   +12 more
wiley   +1 more source

Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction

Epilepsia, EarlyView.
Abstract SCN2A encodes for the alpha subunit of the voltage‐gated sodium channel NaV1.2, which is involved in action potential initiation and backpropagation in excitatory neurons. Currently, it is one of the highest monogenetic risk factors for both epilepsy and autism spectrum disorder.
Katelin E. J. Scott, Maria Fernanda Hermosillo Arrieta, Aislinn J. Williams   +2 more
wiley   +1 more source