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Updated: Feb 11, 2026

Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE
Published on: August 16, 2024
Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and
A Orsini1, A Bonuccelli1, P Striano2
1U.O Pediatria, Azienda Ospedaliera Universitaria Pisana, Università di Pisa, Italy.
Abstract:
Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 Mb deletion at 13q34; it contains two protein-coding genes, SOX1 and ARHGEF7, whose haploinsufficiency can contribute to the epileptic phenotype.
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