Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
about
Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy.The spectrum of anticonvulsant efficacy of retigabine (ezogabine) in animal models: implications for clinical use.Potassium channels: structures, diseases, and modulators.Mutational consequences of aberrant ion channels in neurological disorders.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Modeling of the Binding of Peptide Blockers to Voltage-Gated Potassium Channels: Approaches and Evidence.The variable phenotypes of KCNQ-related epilepsy.Site-directed mutagenesis of neonatal convulsions associated KCNQ2 gene and its protein expression.Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype.
P2860
Q34390785-37010DE4-E900-487B-9649-69ECBFB0CE5BQ35604485-0ADADBB1-F03D-4EBB-B3DF-0E7CA307F298Q37973453-32D44C5A-E446-4692-A2F9-6B7647273A61Q38151974-72D73D36-AD1F-47F1-AE8C-A8F4008A723EQ38239544-1B578427-A967-4545-A5A9-01EE9AD55584Q38795017-FBBBE08C-C072-4FF6-AAAF-1CA84C447CE8Q38903019-2358C58F-18EF-41C7-A078-9318BE0354AFQ42462761-A099DAC5-72CB-47D6-B0B9-F1765C2EDD27Q42696134-5EC9B2C1-8F89-49B5-82B8-B5D43A54E070Q45406859-AF8A6246-257D-4869-B09D-6C259BE0288CQ47764737-83C25429-6B1C-4C44-9C2C-35A2705ED827Q52777316-F11C1B45-0C8C-41B9-982F-AF994A762F36
P2860
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Functional analysis of novel K ...... Familial Neonatal Convulsions.
@en
Functional analysis of novel K ...... Familial Neonatal Convulsions.
@nl
type
label
Functional analysis of novel K ...... Familial Neonatal Convulsions.
@en
Functional analysis of novel K ...... Familial Neonatal Convulsions.
@nl
prefLabel
Functional analysis of novel K ...... Familial Neonatal Convulsions.
@en
Functional analysis of novel K ...... Familial Neonatal Convulsions.
@nl
P2093
P1433
P1476
Functional analysis of novel K ...... Familial Neonatal Convulsions
@en
P2093
Bobby P C Koeleman
Joost H G Das
Linda Volkers
Marjan J A van Kempen
Martin B Rook
Nienke E Verbeek
W Antoinette Groenewegen
P356
10.1016/J.NEULET.2009.06.064
P407
P577
2009-06-25T00:00:00Z