Subthreshold changes of voltage-dependent activation of the KV7.2 channel in neonatal epilepsy

Subthreshold changes of voltage-dependent activation of the KV7.2 channel in neonatal epilepsy

Benign familial neonatal convulsions (BFNC) is an epileptic disorder caused by dominant mutations in the genes KCNQ2 and KCNQ3 encoding the K+ channels KV7.2 and KV7.3. We identified two novel KCNQ2 mutations in two BFNC families. One mutation predicted a truncated protein (S247X) that lacks the cha...

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Bibliographic Details
Main Authors: Jessica Hunter, Snezana Maljevic, Anupama Shankar, Anne Siegel, Barbara Weissman, Philip Holt, Larry Olson, Holger Lerche, Andrew Escayg
Format: Article
Language:English
Published: Elsevier 2006-10-01
Series:Neurobiology of Disease
Subjects:
BFNC
Epilepsy
Ion channel
Genetics
Structure function analysis
Voltage clamp
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996106001495

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http://www.sciencedirect.com/science/article/pii/S0969996106001495

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