Results 141 to 150 of about 142,677 (240)

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

Efficacy and tolerability of the ketogenic diet versus high‐dose adrenocorticotropic hormone for infantile spasms: A single‐center parallel‐cohort randomized controlled trial

Epilepsia, 2019
To compare the efficacy and safety of the ketogenic diet (KD) with standard adrenocorticotropic hormone (ACTH) treatment in infants with West syndrome.
A. Dressler, F. Benninger, Petra Trimmel‐Schwahofer, G. Gröppel, B. Porsche, K. Abraham, A. Mühlebner, Sharon Samueli, C. Male, M. Feucht   +9 more
semanticscholar   +1 more source

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 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

Managing Dystonia in Partington Syndrome

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.
Emilie Pichon, Aurea Alioth, Sabina Catalano Chiuvé, André Zacharia, Marta Ruiz‐Lopez, David P. Breen, Florence Zangas‐Gehri, Florent Draye, Aurore Curie, Duncan Wilson, Victor S.C. Fung, Stephen Duma, Joël Fluss, Julien F. Bally   +13 more
wiley   +1 more source

Seizure modulation by the gut microbiota and tryptophan-kynurenine metabolism in an animal model of infantile spasms

EBioMedicine, 2022
C. Mu, A. Choudhary, Shyamchand Mayengbam, K. Barrett, J. Rho, J. Shearer, Morris H. Scantlebury   +6 more
semanticscholar   +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  

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

The ketogenic diet alters microbiome‐metabolome profiles to improve West syndrome therapy

Pediatric Investigation, EarlyView.
The ketogenic diet alleviates West syndrome by reshaping gut microbiota (increasing Bacteroides, Parabacteroides, and reducing Escherichia and Bifidobacterium), and modulating metabolites—including anticonvulsant lipids (e.g., capric acid), suppressed harmful lipids (e.g., 2‐methylbutyroylcarnitine), and amino acids and analogs (e.g., 3‐sulfinoalanine)—
Gan Xie, Qian Zhou, Jianxiang Liao, Yuejie Zheng, Wenjian Wang, Kunling Shen   +5 more
wiley   +1 more source

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