Annals of Indian Academy of Neurology
  Users Online: 250 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
 
CASE REPORT
Ahead of Print

Identification of a novel mutation in GRIN2A gene with global developmental delay and refractory epilepsy


1 Department of Pediatric Neurology, Faculty of Medicine, Mersin University, Mersin, Turkey
2 Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey

Correspondence Address:
Esra Sarigecili,
Mersin University, Faculty of Medicine, Department of Pediatric Neurology, Mersin
Turkey
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_365_18

We report a 2.5-year-old Turkish boy who first presented with nystagmus, lack of eye contact, and hypotonia at 2 months of age and developed refractory seizures when 6 months old. Extensive metabolic tests and imaging being noncontributory, whole-exome sequencing was carried out which revealed a heterozygote NM_001134407.2:C.3299A>G (p.Glu1100Gly) novel mutation in GRIN2A gene. Topiramate was started and seizures were rapidly brought under control. GRIN2A mutations may result in altered GluN2A membrane trafficking and response to glutamate. This report illustrates the clinical variability of GRIN2A mutations according to the age of onset of symptoms and suggests considering mutations in this gene in cases of global developmental delay, refractory epilepsy, and nystagmus.


Print this article
 [NEXT]
 [PREV]
 Table of Contents

  Search Pubmed for
 
    -  Sarigecili E
    -  Direk MC
    -  Komur M
    -  Bozdogan ST
    -  Okuyaz C
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed64    
    PDF Downloaded3    

Recommend this journal