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Article

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature.

Genes - 25 Apr 2024

Privitera Flavia, Pagano Stefano, Meossi Camilla, Battini Roberta, Bartolini Emanuele, Montanaro Domenico, Santorelli Filippo Maria

Abstract excerpt

SATB1 (MIM #602075) is a relatively new gene reported only in recent years in association with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered electroencephalogram (EEG), and brain abnormalities on imaging. To date about thirty variants in forty-four patients/children have been described, with a heterogeneous spectrum of...

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Identifiers

PMID: 38790177
DOI: 10.3390/genes15050548
PMCID: PMC11120869

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