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How do mutant Nav1.1 sodium channels cause epilepsy?

✍ Scribed by David S. Ragsdale


Book ID
113506332
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
551 KB
Volume
58
Category
Article
ISSN
0165-0173

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A rescuable folding defective Nav1.1 (SC
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Mutations of voltage-gated Na + channels are the most common known cause of genetically determined epilepsy; Na v 1.1 (SCN1A) is the most frequent target. They can cause both mild and severe forms, also in patients harboring the same mutation. We have recently characterized in a family with extreme