PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels
Version of Record online: 13 JAN 2014
Wiley Periodicals, Inc. © 2014 International League Against Epilepsy
Volume 55, Issue 2, pages e13–e17, February 2014
How to Cite
Epilepsia, 55(2):e13–e17, 2014
- Issue online: 12 FEB 2014
- Version of Record online: 13 JAN 2014
- Manuscript Accepted: 6 NOV 2013
- Ministry of Health, Labour and Welfare of Japan
- Japan Society for the Promotion of Science. Grant Numbers: 24249019, 25293085 25293235, 23590363
- Takeda Science Foundation
- Japan Science and Technology Agency
- Strategic Research Program for Brain Sciences. Grant Number: 11105137
- Grant-in-Aid for Scientific Research on Innovative Areas
- Ministry of Education, Culture, Sports, Science and Technology of Japan. Grant Numbers: 12024421, 25129705
Figure S1. Expression of GPI-anchored proteins on granulocytes from the patient.
Table S1. Clinical features of individuals with PIGO mutations.
Table S2. Summary of the exome sequencing performance.
Table S3. Candidate variants corresponding to the autosomal recessive model.
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