Results 131 to 140 of about 5,282,507 (400)

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain

open access: yesEpilepsia, EarlyView.
Abstract Brain development and subsequent brain function are highly sensitive to genetic mutations, which can result in severe neurodevelopmental malformations. Alterations in PTEN signaling cause a spectrum of developmental malformations and neurological diseases including epilepsy.
Franziska Fazekas   +16 more
wiley   +1 more source

Biosynthesis of gamma-aminobutyric acid by Lactiplantibacillus plantarum K16 as an alternative to revalue agri-food by-products [PDF]

open access: gold, 2022
Lucía Diez-Gutiérrez   +5 more
openalex   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

open access: yesEpilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz   +73 more
wiley   +1 more source

GABA-modulating bacteria of the human gut microbiota. [PDF]

open access: yes, 2019
The gut microbiota affects many important host functions, including the immune response and the nervous system1. However, while substantial progress has been made in growing diverse microorganisms of the microbiota2, 23-65% of species residing in the ...
Clardy, Jon   +18 more
core  

Freedon study: Real‐life outcomes of cenobamate in different lines of treatment

open access: yesEpilepsia, EarlyView.
Abstract Objectives Cenobamate is an antiseizure medication (ASM) with proven effectiveness in individuals with highly refractory epilepsy. This study investigated the effectiveness and tolerability of cenobamate in different treatment lines and a less refractory setting. Methods This was a multicenter, retrospective, observational study.
Vicente Villanueva   +50 more
wiley   +1 more source

Depressive symptoms as independent correlates of epilepsy‐related cognitive burden

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to assess the relationship between the severity of depression and anxiety symptoms and epilepsy‐related variables and cognitive burden in people with epilepsy (PwE), as assessed using EpiTrack. Methods We prospectively enrolled a cohort of PwE who underwent EpiTrack and evaluation by Generalized Anxiety ...
Biagio Maria Sancetta   +10 more
wiley   +1 more source

Establishing an Ion Pair Interaction in the Homomeric {rho}1 {gamma}-Aminobutyric Acid Type A Receptor That Contributes to the Gating Pathway [PDF]

open access: yes, 2007
{gamma}-Aminobutyric acid type A (GABAA) receptors are members of the Cys-loop superfamily of ligand-gated ion channels. Upon agonist binding, the receptor undergoes a structural transition from the closed to the open state, but the mechanism of gating ...
Dougherty, Dennis A.   +2 more
core  

Inroads into epilepsy through high‐frequency oscillations: Achievements and benchmark areas for improvement

open access: yesEpilepsia, EarlyView.
Abstract High‐frequency oscillations (HFOs) were discovered more than 20 years ago, and since then they have been studied intensively in the context of epilepsy. HFOs encompass a broad spectrum of oscillations, typically ranging from 80 Hz to several kHz, that include both normal and pathological oscillations, documented in people with epilepsy and ...
Christos Panagiotis Lisgaras   +6 more
wiley   +1 more source

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