Fetal and Pediatric Neurological Disorders

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The manuscript content is unavailable because the abstract was withdrawn due to confidential information, so no TUBA1A-related tubulinopathy findings or numbers can be extracted.

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SPANGY applied to 635 fetal brain MRI scans (20–38 weeks gestational age) quantifies temporally ordered cortical folding, showing low-frequency deep fissures emerge first and are progressively superseded by higher-frequency folds.

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A 31-year-old woman with recurrent miscarriages and fetal holoprosencephaly had a balanced translocation, 46,XX,t(3;13)(q27;q31), linked to fetuses carrying CNVs.

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Whole-exome sequencing in 179 fetuses with ultrasound-detected abnormalities at a tertiary center identified pathogenic or likely pathogenic variants explaining the phenotype in 32 cases (17.88%).

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In low-risk pregnancies, fetuses with non-structural ultrasound abnormalities show CNV detection rates of 4.5% for pathogenic/likely pathogenic CNVs and 9.2% for VUS overall.

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Loss of NDE1 disrupts neural progenitor regional identity in human brain organoids and mouse forebrains, causing a caudal identity shift linked to prolonged mitosis and altered patterning.

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NFIs bidirectionally control radial glial progenitor (RGP) temporal progression and lifespan, with NFI loss protracting lineage progression and overproducing progeny, and NFI overexpression accelerating it.

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Pathogenic or likely pathogenic genomic abnormalities were found in 10.3% of 107 Tunisian patients with radiologically confirmed corpus callosum abnormalities, with array-CGH contributing most.

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Cell cycle-related genes are already involved in the tree shrew OSVZ across three developmental stages, supporting shared molecular participation in OSVZ development.