Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy / 神经科学通报·英文版
Neuroscience Bulletin
;
(6): 549-565, 2018.
Article
Dans Anglais
| WPRIM
| ID: wpr-777058
ABSTRACT
Epilepsy is one of the most common neurological diseases. Of all cases, 70%-80% are considered to be due to genetic factors. In recent years, a large number of genes have been identified as being involved in epilepsy. Among them, N-methyl-D-aspartate receptor (NMDAR) subunit-encoding genes represent a large proportion, suggesting an important role for NMDARs in epilepsy. In this review, we summarize and analyze the genotypes, functional alterations, and clinical aspects of NMDAR subunit mutations/variants identified from patients with epilepsy. These data will help to throw light upon the pathogenicity of these NMDAR mutations and advance our understanding of the subtle and complicated role of NMDARs in epilepsy. It will also offer new insights into precision therapy for this disorder.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Récepteurs du N-méthyl-D-aspartate
/
Prédisposition génétique à une maladie
/
Épilepsie
/
Génétique
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Animaux
/
Humains
langue:
Anglais
Texte intégral:
Neuroscience Bulletin
Année:
2018
Type:
Article
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