1. Home
  2. Browse
  3. HRA008639
HRA008639
   HRA008639.xlsx
Title:
A novel de novo variant of NACC1 caused epileptic encephalopathy and intellectual disability
Release date:
2024-09-26
Description:
This is the first case revealing a novel NACC1 c.903A>G variant that induced a neurological impairment in an infant. This report expanded the understanding of the non-domain-associated variant of NACC1 and developmental disorder.
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA030398
Study type:
Disease Study
Disease name:
intellectual disability
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
HDAC004746
DAC name:
NACC1 for ID
Contact person:
Li Yifei
Email:
liyfwcsh@scu.edu.cn
Description:
This is the first case revealing a novel NACC1 c.903A>G variant that induced a neurological impairment in an infant. This report expanded the understanding of the non-domain-associated variant of NACC1 and developmental disorder.
Individuals & samples
Files
Request Data
Submitter:   Li Yifei / liyfwcsh@scu.edu.cn
Organization:   West China Second University Hospital, Sichuan University
Submission date:   2024-09-23
Requests:   -