Epileptic encephalopathy with variants in the phactr1 and aff2 genes: a case report

This article presents a case report of a patient with DEE70 with a heterozygous variant in the PHACTR1 gene, who also presents a hemizygous variant in the AFF2 gene, associated with FRAXE syndrome. A phenotypic comparison is made between this case and four other previously reported cases with variants in the PHACTR1 gene. In addition, the possible participation of the PHACTR1 and AFF2 genes in the clinical characteristics of the individual is discussed.

Source: Cytogenetic and Genome Research - December 19, 2022 Category: Genetics & Stem Cells Source Type: research