Compound heterozygous mutations in the SSPOP gene lead to epilepsy and developmental disorders.

Abstract excerpt

The SSPOP gene, currently classified as a pseudogene in the human genome, encodes the SCO-spondin protein, which plays an important role in human neurodevelopment, although its function remains poorly understood. In this study, we used trio-based whole exome sequencing to identify compound heterozygous SSPOP variants in four children from three unrelated families, including one pair of dizygotic twins. These...

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