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Publications
2024
Voltage-gated sodium channels in genetic epilepsy: up and down of excitability.,
J Neurochem 2024 Dec; 168(12): 3872-3890.
2024
Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1AL263V is prevented by sodium channel blockade.,
Proc Natl Acad Sci U S A 2024 Apr; 121(14): e2309000121.
2023
Structure-function relationship of new peptides activating human Nav1.1.,
Biomed Pharmacother 2023 Sep; 165(): 115173.
2023
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.,
Epilepsia 2023 May; 64(5): 1331-1347.
2022
Predictive precision medicine efforts for voltage-gated sodium channel genetic variants.,
Brain 2022 Dec; 145(12): 4148-4150.
2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.,
Brain 2022 Nov; 145(11): 3816-3831.
2021
Sodium channelopathies of skeletal muscle and brain.,
Physiol Rev 2021 Oct; 101(4): 1633-1689.