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Research ID

hum0347-v2Release info

Latest

Research title

Comprehensive genetic analysis of acute encephalopathy

Research overview

Aims
The objective of our study is that explore susceptibility genes for acute encephalopathy (AE). The ultimate purpose of our research is to elucidate the pathology of AE and to establish early diagnosis and specific treatment.
Methods
Peripheral blood samples were collected from the AE with biphasic seizures and late reduced diffusion (AESD) patients. DNA extraction and PCR were conducted, then PCR amplicons were subjected to the sequencing analysis by the Sanger method or performed a genome-wide association study using genotyping data obtained from SNP chip.
Participants/materials
Sequencing analysis: 283 AESD patients
GWAS: 254 AESD patients and 799 healthy adult controls
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
NHA000167rs16944 genotype of AESD patients
  • Single-SNP genotyping (rs16944, IL1B)
Unrestricted-access2022-05-16
NHA000175GWAS for AESD
  • Genotyping by array
Unrestricted-access2022-07-15

Data provider

Principal investigator
Masashi Mizuguchi
Affiliation
Graduate School of Medicine, Department of Developmental Medical Sciences, The University of Tokyo

Research projects

NameURL
Comprehensive genetic analysis of acute encephalopathy
N/A

Grants

NameTitleProject number
Grant-in-Aid for Scientific Research (B)
Interface of neural activity, immunity and metabolism in acute encephalopathy
  • 15H04872
Grant-in-aid for Policy Research for Intractable Diseases
Establishment of therapeutic guidelines of acute encephalopathy and status epilepticus in children
  • H30-難治等(難)-一般-007

Related publications

TitleDOIDataset ID
Association of IL-1B rs16944 polymorphism with acute encephalopathy with biphasic seizures and late reduced diffusion is opposite to that with febrile seizures.
https://doi.org/10.3389/fneur.2022.891721 (opens in a new tab)
GWAS identifies candidate susceptibility loci and microRNA biomarkers for acute encephalopathy with biphasic seizures and late reduced diffusion
https://doi.org/10.1038/s41598-021-04576-y (opens in a new tab)