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...
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: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996106001495 |
Similar Items
-
A nonsense mutation in the α4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)
by: C. Beck, et al.
Published: (1994-11-01) -
An epilepsy-causing mutation leads to co-translational misfolding of the Kv7.2 channel
by: Janire Urrutia, et al.
Published: (2021-05-01) -
The voltage-sensing domain of kv7.2 channels as a molecular target for epilepsy-causing mutations and anticonvulsants
by: Francesco eMiceli, et al.
Published: (2011-02-01) -
Local changes in neocortical circuit dynamics coincide with the spread of seizures to thalamus in a model of epilepsy
by: Florian B Neubauer, et al.
Published: (2014-09-01) -
CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation
by: Chiara Villa, et al.
Published: (2019-02-01)