Results 51 to 60 of about 12,236 (230)
ChemistryEurope, EarlyView.Hyperpolarization by parahydrogen‐induced polarization enhances the sensitivity of nuclear magnetic resonance spectroscopy of amino acids, peptides, mini‐proteins, and biopolymers using nonnatural amino acids with unsaturated side chains up to three orders of magnitude.
Gerd Buntkowsky
wiley +1 more source
Retinal nerve fibre layer thinning is associated with drug resistance in epilepsy. [PDF]
, 2015 Retinal nerve fibre layer (RNFL) thickness is related to the axonal anterior visual pathway and is considered a marker of overall white matter 'integrity'. We hypothesised that RNFL changes would occur in people with epilepsy, independently of vigabatrin
Acheson, J +11 more
core +1 more source
Resolution of generalized tonic seizures following focal ablative or resective surgery
Epileptic Disorders, EarlyView.Abstract Objective Focal brain lesions may underlie generalized tonic seizures, as seen in Lennox–Gastaut syndrome, by engaging bilateral neural networks. However, this seizure type is often not considered surgically remediable. Here, we describe the resolution of apparent electroclinically classic generalized tonic seizures in children originating ...
Sem L. Kampman +3 more
wiley +1 more source
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]
, 2019 Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea +28 more
core +2 more sources
Epilepsia, EarlyView.Abstract The artificial intelligence (AI) revolution is upon us. It will inevitably form a central component of epilepsy workflows and patient advocacy. Therefore, it behooves us as health care providers to ride the crest of this wave and guide its direction for the benefit of all people with epilepsy.
Colin B. Josephson +13 more
wiley +1 more source
Reconsideration of Vigabatrin Effect in Infantile Spasms Treatment [PDF]
Annals of Child Neurology, 2019 Purpose To investigate the effect of vigabatrin (VGB) as a therapeutic agent for patients with infantile spasms (IS), compare risk factors for treatment response, and review safety of VGB by assessing its side effects.
Da Hye Yoon +3 more
doaj +1 more source
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
Epileptic spasms - 175 years on: Trying to teach an old dog new tricks [PDF]
, 2017 PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review.
Ibekwe, RC +2 more
core +1 more source
Vigabatrin (Sabril) for the Treatment of Refractory Complex Focal Seizures in Adults: Pharmacologic and Clinical Considerations [PDF]
, 2023 Taylor Gatson +9 more
openalex +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