2017 Fiscal Year Final Research Report
Research of early diagnosis system for epileptic encephalopathy by whole exome sequencing
| Project/Area Number |
16K19626
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Yamagata University |
|---|
Principal Investigator |
|
|---|
| Research Collaborator |
KATO Mitsuhiro 昭和大学, 医学部, 小児科
MATSUMOTO Naomichi 横浜市立大学, 医学研究科遺伝学
|
|---|
| Project Period (FY) |
2016-04-01 – 2018-03-31
|
| Keywords | 小児神経疾患 / てんかん / 知的障害 |
|---|
| Outline of Final Research Achievements |
Pediatric neurological diseases such as epileptic encephalopathy often have poor neurological prognosis. We thought that establishing an early diagnosis system is important while clarifying its genetic background. In this study, we identified a novel mutation of the KCNQ3 gene in West syndrome. Secondly, we confirmed the CPT2 polymorphism in acute encephalopathy. Thirdly, we found HECW2 mutation in patient with attacks of flaccid paralysis. We need elucidate the functions of these genes, develop for order-made therapy and shorten the time for analysis.
|
| Free Research Field |
小児神経学、てんかん
|
