Jean-François Desaphy Selected Research

Potassium aggravated myotonia

1/2020	Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias.
1/2019	Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate.
5/2016	Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.
4/2013	Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy.
1/2004	Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block.

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Jean-François Desaphy Research Topics

Disease

13	Myotonia 12/2021 - 01/2004
7	Atrophy 01/2015 - 11/2007
5	Channelopathies 06/2022 - 04/2007
5	Potassium aggravated myotonia 01/2020 - 01/2004
5	Myotonia Congenita (Thomsen Disease) 01/2018 - 10/2013
4	Neoplasms (Cancer) 06/2022 - 02/2021
4	Muscular Atrophy (Muscle Atrophy) 01/2017 - 12/2010
3	Muscular Diseases (Myopathy) 01/2017 - 01/2004
3	Chronic Pain 01/2015 - 04/2009
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 03/2003
2	Paralysis (Palsy) 01/2021 - 01/2021
2	Rare Diseases (Rare Disease) 12/2020 - 08/2020
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 07/2020 - 01/2018
2	Epilepsy (Aura) 01/2020 - 02/2013
2	Myotonic Disorders (Paramyotonia Congenita) 01/2019 - 01/2004
2	Pain (Aches) 01/2015 - 04/2009
1	Multiple Myeloma 06/2022
1	Ovarian Neoplasms (Ovarian Cancer) 02/2021
1	Reperfusion Injury 01/2021
1	Neurodevelopmental Disorders 08/2020
1	Fragile X Syndrome (Martin Bell Syndrome) 08/2020
1	Cardiac Arrhythmias (Arrythmia) 01/2020
1	Stomach Neoplasms (Stomach Cancer) 01/2020
1	Parkinson Disease (Parkinson's Disease) 01/2020
1	Dyspepsia (Indigestion) 01/2020
1	Ischemic Stroke 01/2018
1	Stroke (Strokes) 01/2018
1	Rhabdomyolysis 01/2017
1	Myalgia 01/2017
1	Neuralgia (Stump Neuralgia) 02/2012
1	Pathologic Processes 01/2008
1	Hyperkalemic Periodic Paralysis 03/2003

Drug/Important Bio-Agent (IBA)

10	Pharmaceutical PreparationsIBA 02/2022 - 04/2007
10	Mexiletine (Mexitil)FDA LinkGeneric 01/2021 - 01/2004
8	Sodium Channel BlockersIBA 12/2021 - 02/2013
7	Ion Channels (Ion Channel)IBA 06/2022 - 01/2004
5	Sodium Channels (Sodium Channel)IBA 01/2020 - 03/2003
4	AntioxidantsIBA 01/2021 - 06/2010
4	Voltage-Gated Sodium ChannelsIBA 01/2020 - 04/2009
4	Polymethyl Methacrylate (Sol)IBA 01/2015 - 11/2007
3	Flecainide (Tambocor)FDA LinkGeneric 01/2020 - 01/2004
3	Chloride Channels (Chloride Channel)IBA 01/2018 - 10/2013
3	Amino Acids FDA Link 01/2018 - 01/2004
2	Tocainide (Tonocard)FDA Link 12/2021 - 03/2014
2	Riluzole FDA LinkGeneric 07/2020 - 01/2018
2	CLC-1 channelIBA 01/2018 - 09/2015
2	Proteins (Proteins, Gene)FDA Link 01/2017 - 05/2011
2	Taurine FDA Link 07/2012 - 01/2004
1	Biological ProductsIBA 04/2022
1	Calcium Channels (Calcium Channel)IBA 02/2021
1	Epithelial Sodium ChannelsIBA 02/2021
1	PlatinumIBA 02/2021
1	PotassiumIBA 02/2021
1	Dichlorphenamide (Daranide)FDA Link 01/2021
1	Cardiotonic Agents (Cardiac Stimulants)IBA 01/2021
1	Complement System Proteins (Complement)IBA 12/2020
1	serotonin 7 receptorIBA 08/2020
1	Serotonin (5 Hydroxytryptamine)IBA 08/2020
1	benzothiazoleIBA 07/2020
1	DexpramipexoleIBA 07/2020
1	safinamideIBA 01/2020
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2020
1	Levodopa (L Dopa)FDA LinkGeneric 01/2020
1	Neuroprotective AgentsIBA 01/2018
1	Peptides (Polypeptides)IBA 01/2018
1	lubeluzoleIBA 01/2018
1	LipidsIBA 01/2017
1	Glucose (Dextrose)FDA LinkGeneric 01/2017
1	Biomarkers (Surrogate Marker)IBA 01/2017
1	CalcineurinIBA 01/2017
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2017
1	ChloridesIBA 09/2015
1	Nandrolone (Nortestosterone)IBA 01/2015
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/2015
1	Anabolic Androgenic SteroidsIBA 01/2015
1	AcidsIBA 05/2014
1	Adrenergic Agents (Adrenergic Drugs)IBA 02/2013
1	Protein Isoforms (Isoforms)IBA 02/2013
1	ProdrugsIBA 02/2012
1	Reactive Oxygen Species (Oxygen Radicals)IBA 05/2011
1	Muscle Proteins (Muscle Protein)IBA 12/2010
1	ProteomeIBA 12/2010
1	Membrane Proteins (Integral Membrane Proteins)IBA 12/2010
1	Analgesics (Analgesic Drugs)IBA 04/2009
1	Orphenadrine (Disipal)FDA LinkGeneric 04/2009
1	Therapeutic UsesIBA 04/2007
1	Neurotransmitter Agents (Neurotransmitter)IBA 04/2007
1	Anti-Arrhythmia AgentsIBA 01/2004
1	SodiumIBA 01/2004
1	CalciumIBA 01/2004
1	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 03/2003

Therapy/Procedure

7	Therapeutics 02/2021 - 04/2007
2	Drug Therapy (Chemotherapy) 02/2022 - 02/2013
2	Bed Rest (Bedrest) 01/2014 - 07/2012
1	Precision Medicine 01/2021
1	Treatment Delay 12/2020
1	Duration of Therapy 01/2020
1	Contraindications 01/2017