ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus.

ABSTRACT:

Objective

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a childhood encephalopathy following severe febrile seizures, leaving neurologic sequelae in many patients. However, its pathogenesis remains unclear. In this study, we clarified that genetic variation in the adenosine A2A receptor (ADORA2A), whose activation is involved in excitotoxicity, may be a predisposing factor of AESD.

Methods

We analyzed 4 ADORA2A single nucleotide polymorphisms in 85 patients with AESD. The mRNA expression in brain samples, mRNA and protein expression in lymphoblasts, as well as the production of cyclic adenosine monophosphate (cAMP) by lymphoblasts in response to adenosine were compared among ADORA2A diplotypes.

Results

Four single nucleotide polymorp

SUBMITTER: Shinohara M 

PROVIDER: S-EPMC3662331 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature