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Neurological and MRI Findings in Malformations of Cortical Development and The Value of 3D FLAIR MRI: A Single-Center Study
High-resolution MRI, particularly 3D FLAIR imaging, improves the detection of subtle cortical abnormalities, especially focal cortical dysplasia, and Optimized MRI protocols using widely available 1.5-T systems may significantly enhance diagnostic accuracy and support therapeutic planning.
Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.
Findings support a dose-dependent SLC20A2 disease spectrum and expand the phenotype associated with biallelic loss of function from primary brain calcification toward severe early-onset neurodevelopmental disorder with prominent vascular and leptomeningeal calcification.