How to Cite this Article: Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N. 2012. Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Am J Med Genet Part A 158A:199–205.
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)†
Article first published online: 21 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 199–205, January 2012
How to Cite
Saitsu, H., Osaka, H., Sugiyama, S., Kurosawa, K., Mizuguchi, T., Nishiyama, K., Nishimura, A., Tsurusaki, Y., Doi, H., Miyake, N., Harada, N., Kato, M. and Matsumoto, N. (2012), Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Am. J. Med. Genet., 158A: 199–205. doi: 10.1002/ajmg.a.34363
- Issue published online: 19 DEC 2011
- Article first published online: 21 NOV 2011
- Manuscript Accepted: 31 JUL 2011
- Manuscript Received: 25 JAN 2011
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science
- Yokohama Foundation for Advancement of Medical Science
- Japan Epilepsy Research Foundation
- Naito Foundation
- early infantile epileptic encephalopathy;
- West syndrome;
- chromosomal translocation;
We report on a female patient with early infantile epileptic encephalopathy and severe psychomotor disability possessing a de novo balanced translocation t(1;9)(q32;q13). The patient showed clonic convulsions of extremities 2 days after birth. Electroencephalogram (EEG) transiently showed atypical suppression-burst pattern. The seizures evolved to brief tonic spasms, and hypsarrhythmia on EEG was noticed at age of 5 months, indicating the transition to West syndrome. By using fluorescent in situ hybridization (FISH), southern hybridization, and inverse PCR, the translocation breakpoints were successfully determined at the nucleotide level. The 1q32.1 breakpoint was located within a segmental duplication and disrupted the gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). The 9q13 breakpoint was suggested to reside in the heterochromatin region. Srgap2 has been shown to be specifically expressed in developing brain of rodents, negatively regulate neuronal migration and induce neurite outgrowth and branching. Thus, SRGAP2 is very likely to play a role in the developing human brain. This is a first report of the SRGAP2 abnormality associated with early infantile epileptic encephalopathy. © 2011 Wiley Periodicals, Inc.