Hugo Poulin
YOU?
Author Swipe
View article: Generation of a patient-specific iPSC cell line with cardiac arrhythmias and dilated cardiomyopathy (CBRCULi016-A), an isogenic control (CBRCULi016-A-1), and a paternal control (CBRCULi017-A)
Generation of a patient-specific iPSC cell line with cardiac arrhythmias and dilated cardiomyopathy (CBRCULi016-A), an isogenic control (CBRCULi016-A-1), and a paternal control (CBRCULi017-A) Open
Dilated cardiomyopathy (DCM) is a prevalent cause of heart failure. We generated induced pluripotent stem cell (iPSC) lines from a DCM patient carrying a mutation in the SCN5A gene, with his healthy father serving as a control. Notably, we…
View article: De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy
De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy Open
View article: <i>SCN2A</i>-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects
<i>SCN2A</i>-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects Open
Voltage-gated sodium channels play an important role in the central nervous system, mutations in which have been reported to be responsible for epilepsy. We report here an infant presenting with epilepsy of infancy with migrating focal sei…
View article: NaV1.5 knockout in iPSCs: a novel approach to study NaV1.5 variants in a human cardiomyocyte environment
NaV1.5 knockout in iPSCs: a novel approach to study NaV1.5 variants in a human cardiomyocyte environment Open
View article: iPSC-derived cardiomyocytes from patients with myotonic dystrophy type 1 have abnormal ion channel functions and slower conduction velocities
iPSC-derived cardiomyocytes from patients with myotonic dystrophy type 1 have abnormal ion channel functions and slower conduction velocities Open
Cardiac complications such as electrical abnormalities including conduction delays and arrhythmias are the main cause of death in individuals with Myotonic Dystrophy type 1 (DM1). We developed a disease model using iPSC-derived cardiomyocy…
View article: R1617Q epilepsy mutation slows Na<sub>V</sub>1.6 sodium channel inactivation and increases the persistent current and neuronal firing
R1617Q epilepsy mutation slows Na<sub>V</sub>1.6 sodium channel inactivation and increases the persistent current and neuronal firing Open
Key points A human Na V 1.6 construct was established to study the biophysical consequences of the R1617Q mutation on Na V 1.6 identified in patients with unclassified epileptic encephalopathy and severe intellectual disability. The R1617Q…
View article: Biophysical Characterization of Two NaV1.4 Mutations Making a Clinical Overlap between the Myotonia-Hyperkalemic and Hypokalemic Periodic Paralysis Clusters of Disorders
Biophysical Characterization of Two NaV1.4 Mutations Making a Clinical Overlap between the Myotonia-Hyperkalemic and Hypokalemic Periodic Paralysis Clusters of Disorders Open
View article: 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 Open
Mutations in Na V 1.4, the skeletal muscle voltage-gated Na + channel, underlie several skeletal muscle channelopathies. We report here the functional characterization of two substitutions targeting the R1451 residue and resulting in 3 dis…
View article: Biophysical Characterization of Two Nav1.4 Mutations Identified in Patients with Cold-Induced Myotonia and Periodic Paralysis
Biophysical Characterization of Two Nav1.4 Mutations Identified in Patients with Cold-Induced Myotonia and Periodic Paralysis Open
View article: A recessive Na <sub>v</sub> 1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis
A recessive Na <sub>v</sub> 1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis Open
We identified a novel loss-of-function mutation of Nav1.4 that leads to a recessive phenotype combining clinical symptoms and signs of congenital myasthenic syndrome and periodic paralysis, probably by decreasing channel availability for m…
View article: Autosomal Recessive Inheritance of Congenital Myasthenic Syndrome is Associated with Skeletal Muscle Sodium Channel Mutations
Autosomal Recessive Inheritance of Congenital Myasthenic Syndrome is Associated with Skeletal Muscle Sodium Channel Mutations Open