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NaV1.1 channels and epilepsy

✍ Scribed by William A. Catterall; Franck Kalume; John C. Oakley


Book ID
110117079
Publisher
Cambridge University Press
Year
2010
Tongue
English
Weight
450 KB
Volume
588
Category
Article
ISSN
0022-3751

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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