Results 81 to 90 of about 37,743 (283)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

A randomised trial of a medium-chain TAG diet as treatment for dogs with idiopathic epilepsy [PDF]

, 2015
Despite appropriate antiepileptic drug treatment, approximately one-third of humans and dogs with epilepsy continue experiencing seizures, emphasising the importance for new treatment strategies to improve the quality of life of people or dogs with ...
Brian Zanghi, Dahlin, Elizabeth Want, Emma S. S. Davies, Engel, Geyelin, Holger A. Volk, Lowrie, Masino, Patterson, Piotr, Piotr, Schwartz, Schwartz-Porsche, Thigpen, Tsz Hong Law, Wilder, Yuanlong Pan   +17 more
core   +3 more sources

Characterizing early behavioral and social–emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is the prototypic developmental and epileptic encephalopathy, characterized by drug‐resistant seizures, developmental slowing, and many other morbidities. Detailed characterization of behavioral phenotypes and social–emotional skill development are limited.
Ingrid E. Scheffer, M. Scott Perry, Joseph Sullivan, Susana Boronat, James Wheless, Andreas Brunklaus, Linda Laux, Anup D. Patel, Colin Roberts, Dennis Dlugos, Deborah Holder, Kelly Knupp, Matt Lallas, Steven Phillips, Eric Segal, Dennis Lal, Elaine Wirrell, Sameer M. Zuberi, Rebecca Shaffer, Mary Wojnaroski, Madison M. Berl, Sarah Christensen, Emma S. James, Maria Candida Vila, Norman Huang, Jacqueline S. Gofshteyn, Salvador Rico   +26 more
wiley   +1 more source

Effect of a Ketogenic Diet on Metabolic Dysfunction‐Associated Steatotic Liver Disease (MASLD) Progression: A Randomized Controlled Trial

JGH Open
Background Despite the popularity of a ketogenic diet, no randomized, controlled trials have evaluated its efficacy on metabolic dysfunction‐associated steatotic liver disease (MASLD) progression.
Sakkarin Chirapongsathorn, Wiwit Rintaravitoon, Bhagawat Tangjaturonrasme, Samitti Chotsriluecha, Yanisa Pumsutas, Achariya Kanchanapradith, Sombat Treeprasertsuk   +6 more
doaj   +1 more source

High fat diet causes rebound weight gain [PDF]

, 2012
Acknowledgements This work was funded by a grant from Action Medical Research (SP4581).
McNay, David E. G., Speakman, John R.
core   +1 more source

Soticlestat as an adjunctive therapy in children and young adults with Dravet syndrome

Epilepsia, EarlyView.
Overview of the phase 3 trial evaluating soticlestat as adjunctive therapy in children and young adults with Dravet syndrome. Abstract Objective This study evaluated the efficacy, safety, and tolerability of soticlestat as adjunctive therapy in children and young adults with Dravet syndrome (DS).
Joseph Sullivan, Kette Valente, Vicente Villanueva, Adam Strzelczyk, Rima Nabbout, Eiji Nakagawa, Yuehua Zhang, Marta Zolnowska, Yasir Khan, Cheng Dong, Samuel Hsiao, Sarah I. Sheikh, Philipp von Rosenstiel, Mahnaz Asgharnejad, Venkatesha Murthy   +14 more
wiley   +1 more source

Is there an optimal diet for weight management and metabolic health? [PDF]

, 2017
Individuals can lose body weight and improve health status on a wide range of energy (calorie) restricted dietary interventions. In this paper, we have reviewed the effectiveness of the most commonly utilized diets, including low-fat, low-carbohydrate ...
Lean, Mike, Thom, George
core   +1 more source

Ketogenic diet

Zdravniški Vestnik, 2009
Background The ketogenic diet is a high fat, adequate protein, low carbohydrate diet. It has been used in the treatment of intractable childhood epilepsy, difficult-to-control seizures in adults, GLUT1 deficiency syndrome and PDH deficiency. conclusions This review traces a history of ketogenic diet, reviews its uses and side effects, and discusses ...
Tina Bregant, Andreja Širca Čampa, Neža Zupančič, David Neubauer   +3 more
openaire   +1 more source

A phase 3, randomized clinical trial of soticlestat as adjunctive therapy for Lennox–Gastaut syndrome

Epilepsia, EarlyView.
Soticlestat as adjunctive therapy for Lennox–Gastaut syndrome. Abstract Objective There remains a need for new treatments for Lennox–Gastaut syndrome (LGS), a developmental and epileptic encephalopathy with a heterogenous patient population that often requires polytherapy. The phase 3, randomized SKYWAY study (NCT04938427) investigated the efficacy and
Renzo Guerrini, Eric D. Marsh, Wei‐Ping Liao, Katsumi Imai, Ruzica Kravljanac, Anna Altmann, Cecil D. Hahn, Stéphane Auvin, Jimmy Schiemann, Yasir Khan, Pranab Mitra, Sarah I. Sheikh, Philipp von Rosenstiel, Mahnaz Asgharnejad, Dennis Dlugos, Venkatesha Murthy   +15 more
wiley   +1 more source

Diet-induced Ketoacidosis in a Non-diabetic: A Case Report [PDF]

, 2020
Introduction: Anion gap metabolic acidosis is a common disorder seen in the emergency department. The differential can include toxicological, renal, endocrine, infectious, and cardiogenic disorders.
Ashurst, John, Slade, Sam
core