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1.
Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening.
Int J Mol Sci
; 23(20)2022 Oct 12.
Article
in English
| MEDLINE | ID: mdl-36292983
2.
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Ann Neurol
; 86(2): 181-192, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31177578
3.
Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.
Epilepsia
; 60(9): 1870-1880, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31418850
4.
Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features.
Int J Mol Sci
; 20(14)2019 Jul 10.
Article
in English
| MEDLINE | ID: mdl-31295832
5.
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
Epilepsia
; 58(1): e10-e15, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27861786
6.
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Epilepsia
; 58(3): 436-445, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28139826
7.
An Ankyrin-G N-terminal Gate and Protein Kinase CK2 Dually Regulate Binding of Voltage-gated Sodium and KCNQ2/3 Potassium Channels.
J Biol Chem
; 290(27): 16619-32, 2015 Jul 03.
Article
in English
| MEDLINE | ID: mdl-25998125
8.
Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons.
J Neurosci
; 34(10): 3719-32, 2014 Mar 05.
Article
in English
| MEDLINE | ID: mdl-24599470
9.
Channel-anchored protein kinase CK2 and protein phosphatase 1 reciprocally regulate KCNQ2-containing M-channels via phosphorylation of calmodulin.
J Biol Chem
; 289(16): 11536-11544, 2014 Apr 18.
Article
in English
| MEDLINE | ID: mdl-24627475
10.
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Neurotherapeutics
; 21(1): e00296, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38241158
11.
Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy.
bioRxiv
; 2024 Feb 08.
Article
in English
| MEDLINE | ID: mdl-38260608
12.
Made for "anchorin": Kv7.2/7.3 (KCNQ2/KCNQ3) channels and the modulation of neuronal excitability in vertebrate axons.
Semin Cell Dev Biol
; 22(2): 185-92, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-20940059
13.
KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.
Ann Clin Transl Neurol
; 10(4): 656-663, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36793218
14.
KCNQ channel PIP2 modulation: Two loose links, three rings, and a twist.
Neuron
; 110(2): 178-180, 2022 01 19.
Article
in English
| MEDLINE | ID: mdl-35051360
15.
Removal of KCNQ2 from parvalbumin-expressing interneurons improves anti-seizure efficacy of retigabine.
Exp Neurol
; 355: 114141, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35691372
16.
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
JCI Insight
; 7(5)2022 03 08.
Article
in English
| MEDLINE | ID: mdl-35104249
17.
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
EBioMedicine
; 81: 104130, 2022 Jul.
Article
in English
| MEDLINE | ID: mdl-35780567
18.
Functional significance of axonal Kv7 channels in hippocampal pyramidal neurons.
Proc Natl Acad Sci U S A
; 105(22): 7869-74, 2008 Jun 03.
Article
in English
| MEDLINE | ID: mdl-18515424
19.
Ion channel clustering at the axon initial segment and node of Ranvier evolved sequentially in early chordates.
PLoS Genet
; 4(12): e1000317, 2008 Dec.
Article
in English
| MEDLINE | ID: mdl-19112491
20.
A KCNQ channel opener for experimental neonatal seizures and status epilepticus.
Ann Neurol
; 65(3): 326-36, 2009 Mar.
Article
in English
| MEDLINE | ID: mdl-19334075