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1.
An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1.
Proc Natl Acad Sci U S A
; 120(31): e2207978120, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37487086
2.
Locus Coeruleus Neurons' Firing Pattern Is Regulated by ERG Voltage-Gated K+ Channels.
Int J Mol Sci
; 23(23)2022 Dec 05.
Article
in English
| MEDLINE | ID: mdl-36499661
3.
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.
Int J Mol Sci
; 23(15)2022 Jul 22.
Article
in English
| MEDLINE | ID: mdl-35897654
4.
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Int J Mol Sci
; 22(11)2021 Jun 04.
Article
in English
| MEDLINE | ID: mdl-34199759
5.
Kcnj16 (Kir5.1) Gene Ablation Causes Subfertility and Increases the Prevalence of Morphologically Abnormal Spermatozoa.
Int J Mol Sci
; 22(11)2021 Jun 01.
Article
in English
| MEDLINE | ID: mdl-34205849
6.
A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.
Int J Mol Sci
; 22(18)2021 Sep 14.
Article
in English
| MEDLINE | ID: mdl-34576077
7.
Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability.
Pflugers Arch
; 472(7): 923-930, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32394190
8.
Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker.
Pflugers Arch
; 472(7): 899-909, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32577860
9.
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
Int J Mol Sci
; 21(8)2020 Apr 22.
Article
in English
| MEDLINE | ID: mdl-32331416
10.
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
Int J Mol Sci
; 21(11)2020 May 27.
Article
in English
| MEDLINE | ID: mdl-32471306
11.
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.
Mol Cell Neurosci
; 83: 6-12, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28666963
12.
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
J Neurophysiol
; 118(4): 2402-2411, 2017 10 01.
Article
in English
| MEDLINE | ID: mdl-28747464
13.
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.
J Med Genet
; 53(11): 786-792, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27582084
14.
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Brain
; 138(Pt 7): 1817-32, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25981959
15.
Expression and function of a CP339,818-sensitive K⺠current in a subpopulation of putative nociceptive neurons from adult mouse trigeminal ganglia.
J Neurophysiol
; 113(7): 2653-65, 2015 Apr 01.
Article
in English
| MEDLINE | ID: mdl-25652918
16.
5-HT2 receptors-mediated modulation of voltage-gated K+ channels and neurophysiopathological correlates.
Exp Brain Res
; 230(4): 453-62, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23702970
17.
Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature.
Neurobiol Dis
; 47(3): 310-21, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22609489
18.
The CaMKII/MLC1 Axis Confers Ca2+-Dependence to Volume-Regulated Anion Channels (VRAC) in Astrocytes.
Cells
; 11(17)2022 08 26.
Article
in English
| MEDLINE | ID: mdl-36078064
19.
Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
Am J Physiol Cell Physiol
; 300(6): C1314-22, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21307345
20.
Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.
Neurobiol Dis
; 43(1): 239-47, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21458570