Publications by authors named "M Estienne"
Article Synopsis
- The study evaluated In-Dex sedation against melatonin and hydroxyzine for individuals with Autism Spectrum Disorder (ASD) during EEG recordings, aiming to identify which patients respond best to In-Dex.
- In a retrospective analysis of EEGs conducted before and after implementing In-Dex, the failure rate dropped from 10.8% to 7.3%, with In-Dex showing particularly favorable outcomes compared to other sedatives.
- Results indicated that In-Dex is a safe option that significantly reduces EEG failure rates, especially in patients with severe behavioral disturbances or those on antipsychotic medication.
Allan-Herndon-Dudley syndrome (AHDS) is caused by mutations in the SLC16A2 gene, encoding for the monocarboxylate transporter 8 (MCT8). Central hypothyroidism and chronic peripheral thyrotoxicosis result in a severe phenotype, mainly characterized by poor growth, intellectual disability, spastic tetraparesis, and movement disorders, including paroxysmal ones (startle reaction and paroxysmal dyskinesias). Seizures are rarely reported.
View Article and Find Full Text PDFClinical features and magnesium levels: Novel insights in 15q11.2 BP1-BP2 copy number variants.
J Intellect Disabil Res
July 2023
Background: Investigating copy number variations (CNVs) such as microdeletions or microduplications can significantly contribute to discover the aetiology of neurodevelopmental disorders. 15q11.2 genomic region, including NIPA1 and NIPA2 genes, contains a recurrent but rare CNV, flanked by the break points BP1 and BP2.
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