Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7. (July 2018)

• Record Type: Journal Article
• Authors: Orsini, A.; Bonuccelli, A.; Striano, P.; Azzara, A.; Costagliola, G.; Consolini, R.; Peroni, D.G.; Valetto, A.; Bertini, V.
• Is Part Of: Seizure. Volume 59(2018)
• Page Start: 38
• Page End: 40
• Publication Date: 2018-07
• Subjects: 13q34 deletion -- Epilepsy -- SOX1 -- ARHGEF7; Epilepsy -- Periodicals; Epilepsy -- Periodicals; Seizures -- Periodicals; Épilepsie -- Périodiques; Electronic journals; Electronic journals; 616.853
• DOI: 10.1016/j.seizure.2018.04.016
• Languages: English
• ISSNs: 1059-1311

Abstract

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.