Weaning from ketogenic diet therapy in children with epilepsy: Insights from a retrospective study
Epilepsia, EarlyView.Abstract Objective This study was undertaken to describe weaning practices following ketogenic diet therapy (KDT) in children with epilepsy and to identify clinical factors associated with seizure exacerbation or antiseizure medication adjustments during or after weaning from KDT.
Noémie Donnard +10 more
wiley +1 more source
Post hoc analyses of surrogate markers of non-alcoholic fatty liver disease (NAFLD) and liver fibrosis in patients with type 2 diabetes in a digitally supported continuous care intervention: An open-label, non-randomised controlled study [PDF]
, 2018 OBJECTIVE: One year of comprehensive continuous care intervention (CCI) through nutritional ketosis improves glycosylated haemoglobin(HbA1c), body weight and liver enzymes among patients with type 2 diabetes (T2D).
Adams, Rebecca N +10 more
core +2 more sources
Optimal approach to standardized documentation in epilepsy clinics: A scoping review
Epilepsia, EarlyView.Abstract Clear documentation and transfer of information between health care providers is key to ensuring the delivery of high‐quality patient care. Our aim was to determine how to optimize and standardize physician documentation in outpatient epilepsy clinics as well as to highlight challenges and barriers to their implementation.
Shahab Marzoughi +8 more
wiley +1 more source
The ketogenic diet and hypoxia promote mitophagy in the context of glaucoma
Frontiers in Cellular NeuroscienceMitochondrial homeostasis includes balancing organelle biogenesis with recycling (mitophagy). The ketogenic diet protects retinal ganglion cells (RGCs) from glaucoma-associated neurodegeneration, with a concomitant increase in mitochondrial biogenesis ...
Autumn B. Morgan +2 more
doaj +1 more source
Cardiovascular disease risk factor responses to a type 2 diabetes care model including nutritional ketosis induced by sustained carbohydrate restriction at 1 year: An open label, non-randomized, controlled study [PDF]
, 2018 Additional file 1: Table S1. Detailed baseline characteristics for participants in the continuous care intervention (CCI) and usual care (UC ...
Ballard, Kevin D +8 more
core +4 more sources
Epilepsia, EarlyView.Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy +8 more
wiley +1 more source
"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]
, 2011 The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
PARISI, Pasquale +7 more
core +1 more source
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 +23 more
wiley +1 more source
Inhibition of the mitochondrial pyruvate carrier protects from excitotoxic neuronal death. [PDF]
, 2017 Glutamate is the dominant excitatory neurotransmitter in the brain, but under conditions of metabolic stress it can accumulate to excitotoxic levels.
Andreyev, Alexander Y +12 more
core +1 more source
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 +26 more
wiley +1 more source