A rescuable folding defective Nav1.1 (SC
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Raffaella Rusconi; Romina Combi; Sandrine Cestèle; Daniele Grioni; Silvana Franc
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Article
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2009
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John Wiley and Sons
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English
β 822 KB
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