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.
Original language | English |
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Pages (from-to) | 38-40 |
Number of pages | 3 |
Journal | Seizure |
Volume | 59 |
DOIs | |
Publication status | Published - Jul 1 2018 |
Keywords
- 13q34 deletion
- ARHGEF7
- Epilepsy
- SOX1
ASJC Scopus subject areas
- Neurology
- Clinical Neurology