Results 231 to 240 of about 41,822 (309)

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell   +8 more
wiley   +1 more source

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

open access: yesPediatric 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   +5 more
wiley   +1 more source

Feedback control of excitability and high K+ induced epileptiform bursts in male rat hippocampal slices with a photocaged adenosine A1 receptor agonist

open access: yesBritish Journal of Pharmacology, EarlyView.
Background and Purpose Adenosine is a potent regulator of neurotransmission and neuronal excitability, through activation of Gi coupled adenosine A1 receptors (A1Rs). Adenosine has gained interest as an anticonvulsant because of its endogenous involvement in ending seizure activity, but peripheral side effects require local application.
Erine Craey   +8 more
wiley   +1 more source

Non‐epileptic paroxysmal events in Rett syndrome: A systematic review of case‐based and observational evidence

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This systematic review identifies and categorizes the spectrum of non‐epileptic paroxysmal events in Rett syndrome. Respiratory disturbances, behavioural episodes, and motor events were the most commonly reported. Improving clinician awareness and diagnostic clarity is key to avoiding unnecessary treatment and enhancing quality of life for individuals ...
Natasha Bhatti, Daniel E. Lumsden
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine   +9 more
wiley   +1 more source

Early neurodevelopmental outcome in newborns with mild hypoxic‐ischaemic encephalopathy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Aim To describe the natural history of newborn children with mild hypoxic‐ischaemic encephalopathy in the first year of life. Method This was a multicentre, prospective observational study involving five neonatal intensive care units in an Italian region using both structured clinical and neurophysiological assessments according to the Italian Society ...
Domenico M. Romeo   +16 more
wiley   +1 more source

Syndromic and etiological classification predicts seizure freedom in childhood and youth onset epilepsy: A population‐based study from the Norwegian Mother, Father, and Child Cohort Study

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to determine the proportion of individuals with childhood and youth onset epilepsy who attain seizure freedom across seizure types, epilepsy types, etiologies, and syndromes using the latest International League Against Epilepsy (ILAE) classifications.
Truls Vikin   +5 more
wiley   +1 more source

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