Results 151 to 160 of about 168,324 (311)

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

open access: yesEpilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt   +17 more
wiley   +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

Insulin‐like growth factor 1 receptor correlates with verbal memory in ILAE type 2 hippocampal sclerosis

open access: yesEpilepsia, EarlyView.
Abstract Objective Long‐term memory deficits are often seen in patients with temporal lobe epilepsy (TLE). Recently, studies showed that patients with hippocampal sclerosis (HS) type 2, which presents with severe neuron loss in CA1 only, performed within the normal range. However, up to 30% of HS type 2 cases have memory deficits.
Henrique Cruz   +10 more
wiley   +1 more source

Risk and Protective Factors for Obstructive Sleep Apnea Syndrome Throughout Lifespan: From Pregnancy to Adolescence. [PDF]

open access: yesChildren (Basel)
Petrongari D   +9 more
europepmc   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

open access: yesEpilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza   +4 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

Fatores associados à assistência pré-natal precária em uma amostra de puérperas adolescentes em maternidades do Município do Rio de Janeiro, 1999-2000

open access: yesCadernos de Saúde Pública
Caracterizou-se o perfil das gestantes com pré-natal precário, segundo variáveis sócio-demográficas, história reprodutiva da mãe, apoio familiar, satisfação com a gestação e comportamentos de risco durante a gravidez.
Silvana Granado Nogueira da Gama   +4 more
doaj  

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