Sophie Nicole

Montpellier, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 31 publications

Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders.

Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders.

Journal: Frontiers in pharmacology

Published: April 16, 2025

Zebrafish fast muscle contractions avoid the mammalian requirement for voltage-gated Na+ channels.

Zebrafish fast muscle contractions avoid the mammalian requirement for voltage-gated Na+ channels.

Journal: PLoS biology

Published: December 23, 2024

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Journal: European journal of human genetics : EJHG

Published: August 01, 2023

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.

Journal: Frontiers in cellular neuroscience

Published: February 01, 2023

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.

Journal: Frontiers in pharmacology

Published: July 31, 2021

Neuronal Cav3 channelopathies: recent progress and perspectives.

Neuronal Cav3 channelopathies: recent progress and perspectives.

Journal: Pflugers Archiv : European journal of physiology

Published: June 08, 2020

Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.

Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.

Journal: Neurology

Published: May 24, 2019

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.

Journal: Scientific reports

Published: July 27, 2018

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.

Journal: Journal of neuromuscular diseases

Published: November 11, 2017

Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.

Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.

Journal: Scientific reports

Published: September 14, 2017

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Journal: Journal of neurology

Published: May 17, 2017

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Journal: American journal of human genetics

Published: April 04, 2016

Showing 1-12 of 31

Last Updated: 09/26/2026