Sandrine Cestele

Sophia Antipolis, France

Last Updated: 09/26/2026

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Found 20 publications

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers.

Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers.

Journal: Neurology. Genetics

Published: October 16, 2025

Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1AL263V is prevented by sodium channel blockade.

Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1AL263V is prevented by sodium channel blockade.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: March 28, 2024

Voltage-gated sodium channels in genetic epilepsy: up and down of excitability.

Voltage-gated sodium channels in genetic epilepsy: up and down of excitability.

Journal: Journal of neurochemistry

Published: July 16, 2023

Structure-function relationship of new peptides activating human Nav1.1.

Structure-function relationship of new peptides activating human Nav1.1.

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Published: March 23, 2023

Predictive precision medicine efforts for voltage-gated sodium channel genetic variants.

Predictive precision medicine efforts for voltage-gated sodium channel genetic variants.

Journal: Brain : a journal of neurology

Published: October 24, 2022

Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.

Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.

Journal: Epilepsia

Published: June 03, 2022

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Journal: Brain : a journal of neurology

Published: January 13, 2022

Sodium channelopathies of skeletal muscle and brain.

Sodium channelopathies of skeletal muscle and brain.

Journal: Physiological reviews

Published: March 26, 2021

Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels.

Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels.

Journal: The Journal of clinical investigation

Published: July 16, 2020

Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine.

Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine.

Journal: Frontiers in molecular neuroscience

Published: May 07, 2018

Showing 1-12 of 20

Last Updated: 09/26/2026