Summary:

NameSevere epilepsy (A:I)
DescriptionRNA editing in GluR-B is essential for brain development to avoid the alteration of calcium permeability which affects mice seizure and survival
Related RNA reactionA:I
Found in RNAmRNA
Modified TranscriptAMPAR GluA2
Mapping Technology
Quantification techniquesRT-PCR

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
ADARB1 Double-stranded RNA-specific editase 1 Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
1119 Early-onset epilepsy and postnatal lethality associated with an editing-deficientGluR-B allele in mice. Brusa R Science [details] 7502080 10.1126/science.270.5242.1677

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