Results 151 to 160 of about 1,249,651 (293)

GABRA2‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features

Epilepsia, EarlyView.
Abstract Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor subunit genes are increasingly associated with epilepsy and neurodevelopmental disorders. Pathogenic variants in GABRA2, encoding the α‐2 subunit of GABAA receptors, have been recently reported.
Marie Adamo‐Croux, Chloé Angelini, Jérôme Aupy, Laurent Villard, Nathalie Villeneuve, Arnaud Chefdor, Yorsa Halleb, Maxime Colmard, Manon Degoutin, Gaetan Lesca, Perrine Charles, Boris Keren, Nicole Chemaly, Cyril Goizet, Mathieu Milh, Claire Bar   +15 more
wiley   +1 more source

Mechanism of the Ketogenic Diet

Pediatric Neurology Briefs, 2000
To elucidate the possible significance of ketone bodies in the mechanism of the ketogenic diet, researchers at Washington University School of Medicine, St Louis, MO, examined the effect of B-hydroxybutyrate and acetoacetate on excitatory and inhibitory synaptic transmission and spontaneous seizures in rat hippocampal slices and cultured hippocampal ...
openaire   +4 more sources

Neuronal oscillatory imbalances in GNAO1‐related disorders associated with disease severity

Epilepsia, EarlyView.
Abstract Objective This study investigates excitatory/inhibitory (E/I) imbalances in GNAO1‐related disorders (GNAO1‐RD), linking neuronal dysfunction to clinical severity using E/I‐sensitive electroencephalography (EEG) analyses. Methods We conducted an observational study involving 12 children with GNAO1‐RD caused by pathogenic variants and 36 age ...
Tongyu Wang, Jana Domínguez‐Carral, William Grant Ludlam, Mar Junyent Segarra, Montserrat Fornaguera Marti, Hilgo Bruining, Kirill A. Martemyanov, Klaus Linkenkaer‐Hansen, Juan Dario Ortigoza‐Escobar   +8 more
wiley   +1 more source

What defines response to vagus nerve stimulation in children with drug‐resistant epilepsy? A prospective cohort study from the CONNECTiVOS collaboration

Epilepsia, EarlyView.
Abstract Objectives Responsiveness to vagus nerve stimulation (VNS) in children with drug‐resistant epilepsy (DRE) is often defined based on reduction in seizure frequency, typically at the 50% threshold, with limited consideration to the effects of therapy on seizure severity and health‐related quality of life (HRQoL). In the current report, we sought
Farbod Niazi, Karim Mithani, Hrishikesh Suresh, Simeon M. Wong, Ivanna Yau, Lyndsey McRae, Thiemo F. Dinger, James T. Rutka, Ayako Ochi, Hiroshi Otsubo, Shelly Weiss, Lauren Sham, Elizabeth Donner, Vann Chau, Aristides Hadjinicolaou, Philippe Major, Alexander G. Weil, Jignesh Tailor, Taylor J. Abel, Madison Remick, Emefa Akwayena, Dewi Schrader, Robert J. Bollo, Matthew D. Smyth, Diana Aum, Sean Lew, Shelly Wang, Toba Niazi, Jeffrey S. Raskin, Elysa Widjaja, Howard L. Weiner, Nisha Gadgil, Melissa A. LoPresti, Gregory W. Albert, Aria Fallah, Elizabeth Kerr, Mary Lou Smith, Puneet Jain, George M. Ibrahim   +38 more
wiley   +1 more source

Epilepsy and the Ketogenic Diet: Assessment of Ketosis in Children Using Breath Acetone [PDF]

, 2002
Kathy Musa‐Veloso
openalex   +1 more source

Controversies in NEN: An ENETS position statement on nutritional support in neuroendocrine neoplasms

Journal of Neuroendocrinology, EarlyView.
Abstract Neuroendocrine neoplasms (NEN) themselves and also their treatment may cause malnutrition, inducing changes in physiological behaviour and eventually leading to increased rates of morbidity and mortality. Malnutrition is a common, under‐recognised and under‐treated condition in patients with NEN, and there are limited data available on the ...
Simona Grozinsky‐Glasberg, Johannes Hofland, Stephanie Alband, Yasmin Chotai de Lima, Adina Croitoru, Wanda Geilvoet, Peter Igaz, Beata Kos‐Kudła, Guenter J. Krejs, Alessandro Laviano, Francesco Panzuto, Anguraj Sadanandam, Ana Paula Santos, Staffan Welin, Rajaventhan Srirajaskanthan, V. Ambrosini, D. K. Bartsch, E. Baudin, N. Begum, E. Christ, J. Cros, T. Denecke, C. M. Deroose, C. Dromain, M. Falconi, N. Fazio, L. Fernandez‐Cuesta, R. Garcia‐Carbonero, A. Grossman, G. Kaltsas, A. Kasajima, A. Kjaer, G. Klöppel, U. P. Knigge, A. Lamarca, S. W. Langer, T. V. Luong, W. Martin, M. McNamara, D. O'Toole, S. Partelli, M. Pavel, A. Perren, R. Salazar, J. Schrader, H. Sorbye, A. Sowa‐Staszczak, E.‐J. Speel, P. Stalberg, M. Tesselaar, E. Tiensuu Janson, M. Tsoli, M. Volante, T. Walter   +53 more
wiley   +1 more source

Ketogenic Diet for Type I Diabetes Mellitus. Literature Review and Clinical Experience

Здоровье мегаполиса
To date, treating type I diabetes mellitus (T1D) is a difficult clinical task that is based, from the traditional point of view, exclusively on adjusting an insulin dose and monitoring a daily carbohydrate intake.
V. O. Generalov, T. Ye. Obodzinskaya, T. R. Sadykov, S. V. Prikazchikov, A. N. Aleksandrenkova   +4 more
doaj   +1 more source

In vivo measurement of brain metabolites using two‐dimensional double‐quantum MR spectroscopy—exploration of GABA levels in a ketogenic diet [PDF]

, 2003
Zhiyue Wang, Christina Bergqvist, Jill V. Hunter, Dongzhu Jin, Dah‐Jyuu Wang, Suzanne Wehrli, Robert A. Zimmerman   +6 more
openalex   +1 more source

Very low‐calorie ketogenic diet and liraglutide as a synergistic strategy for the treatment of obesity: A short‐term, non‐randomised, observational, real‐world clinical evaluation

Diabetes, Obesity and Metabolism, EarlyView.
Elisabetta Camajani, Davide Masi, Maria Letizia Spizzichini, Camilla Cori, Rebecca Rossetti, Maria Elena Spoltore, Dario Tuccinardi, Carla Lubrano, Lucio Gnessi, Andrea M. Isidori, Daniele Gianfrilli, Costanzo Moretti, Massimiliano Caprio, Mikiko Watanabe   +13 more
wiley   +1 more source

Growth, Feeding and Nutrition in Rett Syndrome: Retrospective Audit of Twenty Years' Experience From an Australian Multidisciplinary Management Clinic

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim This study reviewed the nutritional status, feeding skills, safety, and management of patients with Rett syndrome during childhood and adolescence. Method Retrospective chart review of 103 females with classical Rett syndrome, aged ≤ 18 years, attending a Rett syndrome Multidisciplinary Management clinic in a tertiary hospital from 2000 to
Susan Thompson, Toni Bird, Gloria Tzannes, Carolyn Ellaway   +3 more
wiley   +1 more source