Search details
1.
Sodium channelopathies of skeletal muscle and brain.
Physiol Rev
; 101(4): 1633-1689, 2021 10 01.
Article
in English
| MEDLINE | ID: mdl-33769100
2.
Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1AL263V is prevented by sodium channel blockade.
Proc Natl Acad Sci U S A
; 121(14): e2309000121, 2024 04 02.
Article
in English
| MEDLINE | ID: mdl-38547067
3.
Voltage-gated sodium channels in genetic epilepsy: up and down of excitability.
J Neurochem
; 2023 Aug 31.
Article
in English
| MEDLINE | ID: mdl-37654020
4.
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Epilepsia
; 64(5): 1331-1347, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36636894
5.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brain
; 145(11): 3816-3831, 2022 11 21.
Article
in English
| MEDLINE | ID: mdl-35696452
6.
Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis.
Stem Cells
; 35(2): 374-385, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27664080
7.
Predictive precision medicine efforts for voltage-gated sodium channel genetic variants.
Brain
; 145(12): 4148-4150, 2022 12 19.
Article
in English
| MEDLINE | ID: mdl-36310533
8.
Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.
Proc Natl Acad Sci U S A
; 110(43): 17546-51, 2013 Oct 22.
Article
in English
| MEDLINE | ID: mdl-24101488
9.
Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum.
Neurobiol Dis
; 75: 100-14, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25576396
10.
Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.
Epilepsia
; 54(5): 927-35, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23398611
11.
Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.
Epilepsia
; 54(8): e112-6, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23899126
12.
Structure-function relationship of new peptides activating human Nav1.1.
Biomed Pharmacother
; 165: 115173, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37453200
13.
Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels.
J Clin Invest
; 131(21)2021 11 01.
Article
in English
| MEDLINE | ID: mdl-34491914
14.
Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel.
J Neurosci
; 28(29): 7273-83, 2008 Jul 16.
Article
in English
| MEDLINE | ID: mdl-18632931
15.
A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?
Hum Mutat
; 30(7): E747-60, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19402159
16.
Four disulfide-bridged scorpion beta neurotoxin CssII: heterologous expression and proper folding in vitro.
Biochim Biophys Acta
; 1770(8): 1161-8, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17544584
17.
Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences.
Neurosci Lett
; 667: 92-102, 2018 02 22.
Article
in English
| MEDLINE | ID: mdl-29129678
18.
Post-translational dysfunctions in channelopathies of the nervous system.
Neuropharmacology
; 132: 31-42, 2018 04.
Article
in English
| MEDLINE | ID: mdl-28571716
19.
Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine.
Front Mol Neurosci
; 11: 232, 2018.
Article
in English
| MEDLINE | ID: mdl-30038559
20.
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
Lancet Neurol
; 17(8): 699-708, 2018 08.
Article
in English
| MEDLINE | ID: mdl-30033060