Results 291 to 300 of about 224,377 (390)
Neuronal oscillatory imbalances in GNAO1‐related disorders associated with disease severity
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
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
Amino acids, purines, and pyrimidines as potential biochemical markers of bipolar disorder - current state of knowledge. [PDF]
Sadko KG, Wichowicz H.
europepmc +1 more source
Abstract Objective Dravet syndrome (DS) is a severe neurodevelopmental disorder caused by pathogenic variants in the SCN1A gene, which encodes the voltage‐gated sodium channel Nav1.1 α subunit. Experiments in animal models of DS—including the haploinsufficient Scn1a+/− mouse—have identified impaired excitability of interneurons in the hippocampus and ...
Limei Zhu+5 more
wiley +1 more source
Frequency and duration of sensory flicker control transcriptional profiles in 5xFAD mice. [PDF]
Bitarafan S+6 more
europepmc +1 more source
Abstract Objective Drug‐resistant epilepsy (DRE) affects >25 million people worldwide and is often associated with neuroinflammation. Increasing evidence links deficiency or malfunctioning of the enzyme phosphoglycerate dehydrogenase (PHGDH), which converts 3‐phosphoglycerate to generate serine and the neurotransmitter glycine, with (drug‐resistant ...
Karin Thevissen+25 more
wiley +1 more source
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