Advances in the studies on the molecular and genetic aspects of epilepsy / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
;
(6): 388-393, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-318899
ABSTRACT
Epilepsy is one of the most common and debilitating neurological diseases that affects more than 40 million people worldwide. Genetic factors contribute to the pathogenesis of epilepsy. Molecular genetic studies have identified 15 disease-causing genes for epilepsy. The majority of the genes encode ion channels, including voltage-gated potassium channels KCNQ2 and KCNQ3, sodium channels SCN1A, SCN2A, and SCN1B, chloride channels CLCN2, and ligand-gated ion channels CHRNA4, CHRNB2, GABRG2, and GABRA1. Interestingly, non-ion channel genes have also been identified as epilepsy genes, and these genes include G-protein-coupled receptor MASS1/VLGR1, GM3 synthase, and proteins with unknown functions such as LGI1, NHLRC1, and EFHC1. These studies make genetic testing possible in some patients, and further characterization of the identified epilepsy genes may lead to the development of new drugs and new treatments for patients with epilepsy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Sodium Channels
/
Epilepsy, Absence
/
Epilepsies, Myoclonic
/
Chloride Channels
/
Epilepsy
/
KCNQ2 Potassium Channel
/
KCNQ3 Potassium Channel
/
Genetics
/
Nerve Tissue Proteins
Type of study:
Prognostic study
Limits:
Humans
Language:
Chinese
Journal:
Acta Academiae Medicinae Sinicae
Year:
2005
Type:
Article
Similar
MEDLINE
...
LILACS
LIS