AI Article Synopsis
- * An 8-year-old Moroccan boy with intermediate epilepsy and intellectual disability underwent genetic testing, revealing heterozygous variants in two genes, including one of uncertain significance that was also found in his healthy mother.
- * More research is necessary to understand the effects of this novel variant to improve care and genetic counseling for children with similar health issues.
Article Abstract
Variants in are associated with several diseases, including developmental and epileptic encephalopathy, intermediate epilepsy or mild-to-moderate developmental and epileptic encephalopathy, self-limited familial infantile epilepsy, neurodevelopmental delays with generalized epilepsy, neurodevelopmental disorder without epilepsy, hypotonia, and movement disorders. Herein, we report an 8-year-old Moroccan boy with intermediate epilepsy of unknown origin, intellectual disability, autism spectrum disorder, and hyperactivity. The patient presented a normal 46, XY karyotype and a normal comparative genomic hybridization profile. Whole-exome sequencing was performed, and heterozygous variants were identified in and . The variant [c.4499C > T (p.Pro1500Leu)] was also detected in the healthy mother and was classified as a variant of uncertain clinical significance. This variant occurs in a highly conserved domain, which may affect the function of the encoded protein. More studies are needed to confirm the pathogenicity of this novel variant to establish the effective care, management, and genetic counselling of affected individuals.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387795 | PMC |
| http://dx.doi.org/10.1177/03000605231187931 | DOI Listing |
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