Neurofeedback News
Medical News Today
PubMed
In silico Genotype-Phenotype Correlation Analysis of Inherited Variations in Autism Spectrum Disorder Families Identify an Interplay between Sensory Function and Repetitive-behaviour Genes -
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with a strong genetic basis. Most genetic studies on ASD emphasize de novo mutations, while inherited rare variants remain understudied. We hypothesize that subtle, inherited ASD-related traits accumulate across generations and clinically manifest as ASD in offspring. To investigate this, we extracted inherited variations from tri...
Identification of De Novo ZBTB18 Variant in a Patient With Global Developmental Delay, Seizures, and Juvenile Facies -
CONCLUSION: To conclude, we report a de novo ZBTB18 frameshift variant (NM_205768.3: c.1474delA (p.Arg492Aspfs∗11)) in a female patient presenting with global developmental delay, epilepsy, ankle hypertonia, and unique juvenile facies. Notably, seizures were ultimately controlled with perampanel, which may provide a therapeutic insight for drug-resistant epilepsy in MRD22. Our study expands the...
Impact of co-amoxiclav-induced gut microbiota modulation on seizure frequency in children with drug-resistant epilepsy -
CONCLUSION: Although short-term co-amoxiclav treatment modified the gut microbiota, it did not lead to a meaningful reduction in seizure frequency in children with drug-resistant epilepsy. These findings underscore the complexity of the gut-brain axis and suggest that simple, short-term antibiotic interventions may not be sufficient to influence seizure outcomes. Future studies should involve l...
Virtual screening and zebrafish phenotype-based evaluation argues against repurposing 4-phenylbutyrate for STXBP1-related disorders -
Syntaxin-binding protein 1 ( STXBP1 ) mutations lead to severe epilepsy, intellectual disability, developmental delay, and movement disorder. Effective treatments for these conditions do not exist. Recent studies in Munc18-1 ( STXBP1 ) C. elegans models demonstrate that 4-phenylbutyrate (4-PBA) or related pharmacological chaperones stabilize Munc18-1 protein levels and rescue locomotion deficit...
Sleep and circadian rhythm disruptions in animal models of temporal lobe epilepsy -
Temporal lobe epilepsy (TLE) is frequently accompanied by disruptions to sleep and circadian rhythms, which substantially contribute to disease burden. Human studies are often confounded by antiseizure medications, limiting insight into underlying mechanisms. Animal models therefore provide critical opportunities to examine causal interactions, yet their translational validity has not been syst...
Facile synthesis of (4-phenylthiophen-2-yl)methyl 1-naphthoates via Suzuki-Miyaura cross-coupling: anti-seizure evaluation through molecular docking, EEG analysis, and ADMET profiling -
This study focused on the synthesis of a novel series of (4-bromothiophen-2-yl)methyl 1-naphthoate derivatives (5a-5h) via the Suzuki-Miyaura cross-coupling with moderate to excellent yields. Acute pentylenetetrazol (PTZ) and 6 Hz psychomotor seizure models were used to investigate in vivo anticonvulsant effects. The 5b, 5d, and 5h showed significant outcomes concerning mortality, protection, a...
Science Daily