Research output per year
Research output per year
Larry Baum, Youling Guo, Hongsheng Gui, Pak Chung Sham, Stacey S. Cherny, Patrick Kwan
Research output: Chapter in Book/Report/Conference proceeding › Chapter (Book) › Other
From analysis of copy number variations (CNVs) in a genome-wide association study (GWAS) of symptomatic epilepsy, we discovered a 1.36 megabase deletion at chromosome 18q21.32 in a patient with borderline intellectual disability, multiple cerebral cavernous malformations (CMs), and complex partial seizures from age one year. The deletion was confirmed by quantitative polymerase chain reaction. The deleted region included the genes ALPK2, MALT1, ZNF532, GRP, RAX, CPLX4, LMAN1, and CCBE1 . GRP (gastrin-releasing peptide, or bombesin) and GRP receptor are expressed in the hippocampus, where GRP depolarizes GABAergic interneurons, thus inhibiting CA1 pyramidal neurons and suppressing seizures. GRP receptor gene disruption has previously been reported in a patient with epilepsy and low intelligence. We speculate that the combined effects of multiple CMs and decreased GRP may have induced epilepsy in this patient. The finding of both genetic and structural abnormalities that could have resulted in epilepsy independently and interactively in this patient illustrates the challenge in classifying epilepsy syndromes.
Original language | English |
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Title of host publication | Biochemistry and Molecular Biology |
Subtitle of host publication | The Complexity of Human Traits and Diseases |
Publisher | Nova Science Publishers |
Pages | 37-46 |
Number of pages | 10 |
ISBN (Electronic) | 9781634823135 |
ISBN (Print) | 9781634823128 |
Publication status | Published - 1 Apr 2015 |
Externally published | Yes |
Research output: Contribution to journal › Article › Research