Results 241 to 250 of about 105,210 (313)

Neuronal oscillatory imbalances in GNAO1‐related disorders associated with disease severity

open access: yesEpilepsia, EarlyView.
Abstract Objective This study investigates excitatory/inhibitory (E/I) imbalances in GNAO1‐related disorders (GNAO1‐RD), linking neuronal dysfunction to clinical severity using E/I‐sensitive electroencephalography (EEG) analyses. Methods We conducted an observational study involving 12 children with GNAO1‐RD caused by pathogenic variants and 36 age ...
Tongyu Wang   +8 more
wiley   +1 more source

Cannabidiol attenuates epileptic phenotype and increases survival in a mouse model of developmental and epileptic encephalopathy type 1

open access: yesEpilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug‐resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X‐linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of ...
Lucia Verrillo   +9 more
wiley   +1 more source

WONOEP XVII appraisal: Targeting network excitability beyond the synapse ‐Neurotransmitter, ionic, and electro ‐diffusions

open access: yesEpilepsia, EarlyView.
Abstract Epilepsy affects approximately 1% of the population worldwide, and although medications are effective in the majority of cases, seizures persist in approximately 30% of patients. Despite the effort to develop new antiseizure drugs, the rate of pharmacoresistance in patients has not diminished over the past 3 decades. There is thus a real unmet
Vincent Magloire   +9 more
wiley   +1 more source

Absence seizures and sleep–wake abnormalities in a rat model of GRIN2B neurodevelopmental disorder

open access: yesEpilepsia, EarlyView.
Abstract Objective Pathogenic mutations in GRIN2B are an important cause of severe neurodevelopmental disorders resulting in epilepsy, autism, and intellectual disability. GRIN2B encodes the GluN2B subunit of N‐methyl‐d‐aspartate receptors (NMDARs), which are ionotropic glutamate receptors critical for normal development of the nervous system and ...
Katerina Hristova   +12 more
wiley   +1 more source

Cell-type specific binocular interactions in mouse visual thalamus. [PDF]

open access: yesiScience
Masterson SP   +3 more
europepmc   +1 more source

Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction

open access: yesEpilepsia, EarlyView.
Abstract SCN2A encodes for the alpha subunit of the voltage‐gated sodium channel NaV1.2, which is involved in action potential initiation and backpropagation in excitatory neurons. Currently, it is one of the highest monogenetic risk factors for both epilepsy and autism spectrum disorder.
Katelin E. J. Scott   +2 more
wiley   +1 more source

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