Page last updated: 2024-08-21

ephedrine and Congenital Myasthenia

ephedrine has been researched along with Congenital Myasthenia in 16 studies

Research

Studies (16)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's4 (25.00)29.6817
2010's9 (56.25)24.3611
2020's3 (18.75)2.80

Authors

AuthorsStudies
Beeson, D; Ehrstedt, C; Frykholm, C; Liu, WW; Punga, AR1
Argente-Escrig, H; Castañón, MJ; Clemen, CS; Herrmann, H; Kamm, L; Muelas, N; Schowalter, M; Schröder, R; Schultheis, D; Thiel, C; Türk, M; Vilchez, JJ; Wiche, G1
Barros-Angueira, F; Eirís-Puñal, J; Fuentes-Pita, P; Gómez-Lado, C; López-Vázquez, A; Pardo, J; Pérez-Gay, L; Quintas-Rey, R1
Eymard, B1
Béhin, A; Eymard, B; Fardeau, M; Fournier, E; Hantaï, D; Laforêt, P; Nicole, S; Richard, P; Romero, N; Servais, L; Sternberg, D; Stojkovic, T1
Beeson, D; Cossins, J; de Baets, M; Lashley, D; Liu, WW; Martinez-Martinez, P; Maxwell, S; Webster, RG; Wickens, JR1
Scholten, RJ; van der Zwaag, AM; Verschuuren, JJ; Vrinten, C; Weinreich, SS1
Beeson, D; Jayawant, S; Palace, J; Ramjattan, H; Robb, SA; Rodríguez Cruz, PM1
Allen, D; Arunachalam, R; Beeson, D; Burke, G; Hammans, S1
Abicht, A; Barisic, N; Deschauer, M; Lindberg, C; Lochmüller, H; Müller, JS; Schara, U; Straub, V; Strigl-Pill, N; Wendt, M1
Lam, CW; Ng, PC; Yeung, WL1
Beeson, D; Jayawant, S; Lashley, D; Palace, J; Robb, S1
Abicht, A; Lochmüller, H; Mahjneh, I; Muntoni, F1
Palace, J1
Beeson, D; Burke, G; Cossins, J; Maxwell, S; Newsom-Davis, J; Nicolle, M; Palace, J; Robb, S; Vincent, A1
Bestue-Cardiel, M; Capablo-Liesa, JL; Engel, AG; López-Pisón, J; Martin-Martinez, J; Peña-Segura, JL; Sáenz de Cabezón-Alvarez, A1

Reviews

3 review(s) available for ephedrine and Congenital Myasthenia

ArticleYear
[Congenital myasthenic syndromes: repurposing does not simplify access de facto - Clinical use of innovative, repurposed or off-label therapies: a real life experience (4)].
    Medecine sciences : M/S, 2019, Volume: 35 Hors série n° 1

    Topics: Albuterol; Cholinesterase Inhibitors; Drug Repositioning; Ephedrine; Health Services Accessibility; Humans; Myasthenic Syndromes, Congenital; Off-Label Use; Practice Patterns, Physicians'; Quality of Life; Quinidine; Therapies, Investigational; Treatment Outcome

2019
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
    Revue neurologique, 2013, Volume: 169 Suppl 1

    Topics: Adolescent; Adult; Central Nervous System Stimulants; Child; Delayed Diagnosis; Diagnostic Errors; Disease Progression; Ephedrine; Female; France; Humans; Information Centers; Male; Middle Aged; Myasthenic Syndromes, Congenital; Pregnancy; Prognosis; Young Adult

2013
Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.
    The Cochrane database of systematic reviews, 2014, Dec-17, Issue:12

    Topics: Adrenergic Agents; Adult; Child; Cholinesterase Inhibitors; Ephedrine; Humans; Infant, Newborn; Myasthenia Gravis; Myasthenia Gravis, Neonatal; Myasthenic Syndromes, Congenital

2014

Trials

2 trial(s) available for ephedrine and Congenital Myasthenia

ArticleYear
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
    Neurology, 2010, May-11, Volume: 74, Issue:19

    Topics: Cohort Studies; DNA Mutational Analysis; Dose-Response Relationship, Drug; Drug Administration Schedule; Ephedrine; Follow-Up Studies; Genetic Predisposition to Disease; Genetic Testing; Humans; Muscle Proteins; Muscle Strength; Muscle, Skeletal; Mutation; Myasthenic Syndromes, Congenital; Outcome Assessment, Health Care; Patient Selection; Prospective Studies; Recovery of Function; Sympathomimetics; Treatment Outcome

2010
Distinct phenotypes of congenital acetylcholine receptor deficiency.
    Neuromuscular disorders : NMD, 2004, Volume: 14, Issue:6

    Topics: 4-Aminopyridine; Adolescent; Adult; Aged; Amifampridine; Cell Line; Child; Child, Preschool; Cholinesterase Inhibitors; DNA Mutational Analysis; Drug Therapy, Combination; Electric Stimulation; Electromyography; Electrophysiology; Embryo, Mammalian; Ephedrine; Evoked Potentials, Motor; Female; Fluorescent Antibody Technique; Humans; Kidney; Male; Middle Aged; Muscle Proteins; Muscles; Mutation; Myasthenic Syndromes, Congenital; Phenotype; Potassium Channel Blockers; Protein Subunits; Pyridostigmine Bromide; Receptors, Cholinergic; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Sequence Analysis, DNA; Severity of Illness Index; Sympathomimetics; Transfection

2004

Other Studies

11 other study(ies) available for ephedrine and Congenital Myasthenia

ArticleYear
Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report.
    Neuromuscular disorders : NMD, 2022, Volume: 32, Issue:1

    Topics: Albuterol; Electromyography; Ephedrine; Female; HEK293 Cells; Humans; Infant, Newborn; Muscle Proteins; Mutation; Myasthenic Syndromes, Congenital; Phenotype

2022
Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.
    Neuropathology and applied neurobiology, 2021, Volume: 47, Issue:2

    Topics: Adrenergic Agents; Adult; Ephedrine; Frameshift Mutation; Humans; Male; Muscular Dystrophy, Emery-Dreifuss; Myasthenic Syndromes, Congenital; Plectin

2021
Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome.
    Revista de neurologia, 2020, Sep-16, Volume: 71, Issue:6

    Topics: Alleles; Child; Electromyography; Ephedrine; Female; Heterozygote; Humans; Muscle Weakness; Mutation, Missense; Myasthenic Syndromes, Congenital; Phenotype; Point Mutation; Pyridostigmine Bromide; Receptors, Nicotinic

2020
A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.
    Experimental neurology, 2013, Volume: 248

    Topics: Adrenergic Agents; Animals; Disease Models, Animal; Ephedrine; Membrane Potentials; Mice; Mice, Transgenic; Miniature Postsynaptic Potentials; Mutation; Myasthenic Syndromes, Congenital; Neuromuscular Junction; Receptors, Cholinergic; Synaptic Transmission; Treatment Outcome

2013
Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.
    Neurology, 2015, Sep-22, Volume: 85, Issue:12

    Topics: Adolescent; Adult; Albuterol; Cohort Studies; Drug Therapy, Combination; Ephedrine; Female; Humans; Male; Middle Aged; Myasthenic Syndromes, Congenital; Receptors, Cholinergic; Severity of Illness Index; Treatment Outcome

2015
A treatable muscle disease.
    Practical neurology, 2009, Volume: 9, Issue:4

    Topics: Age Distribution; Aged; Disease Progression; Ephedrine; Extremities; Female; Gait Disorders, Neurologic; Genetic Predisposition to Disease; Horner Syndrome; Humans; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Muscular Diseases; Myasthenic Syndromes, Congenital; Neuromuscular Junction

2009
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
    Neuromuscular disorders : NMD, 2009, Volume: 19, Issue:12

    Topics: Adolescent; Adult; Child; Cohort Studies; Ephedrine; Face; Female; Follow-Up Studies; Humans; Male; Middle Aged; Muscle Proteins; Muscle Weakness; Mutation; Myasthenic Syndromes, Congenital; Prospective Studies; Severity of Illness Index; Sympathomimetics; Treatment Outcome

2009
Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
    Developmental medicine and child neurology, 2010, Volume: 52, Issue:10

    Topics: Acetylcholinesterase; Adolescent; Asian People; Central Nervous System Stimulants; Collagen; Ephedrine; GPI-Linked Proteins; Heterozygote; Humans; Male; Muscle Proteins; Muscle Strength; Mutation; Myasthenic Syndromes, Congenital; Neural Conduction; RNA Splicing; Sympathomimetics; Time Factors; Treatment Outcome

2010
DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.
    Neuromuscular disorders : NMD, 2013, Volume: 23, Issue:1

    Topics: Adrenergic beta-2 Receptor Agonists; Adult; Albuterol; Diagnosis, Differential; Ephedrine; Female; Humans; Male; Middle Aged; Muscle Proteins; Muscle Strength; Muscle Weakness; Muscular Dystrophies, Limb-Girdle; Mutation; Myasthenic Syndromes, Congenital; Pakistan; Treatment Outcome

2013
DOK7 congenital myasthenic syndrome.
    Annals of the New York Academy of Sciences, 2012, Volume: 1275

    Topics: Adolescent; Adult; Albuterol; Child; Child, Preschool; Diagnosis, Differential; Drug Therapy, Combination; Ephedrine; Humans; Infant; Infant, Newborn; Muscle Proteins; Myasthenic Syndromes, Congenital; Phenotype; Young Adult

2012
Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.
    Neurology, 2005, Jul-12, Volume: 65, Issue:1

    Topics: Acetylcholinesterase; Adolescent; Adrenergic Agents; Child; Cholinesterase Inhibitors; Diagnosis, Differential; DNA Mutational Analysis; Electromyography; Ephedrine; Female; Genetic Predisposition to Disease; Humans; Male; Muscle, Skeletal; Mutation; Myasthenic Syndromes, Congenital; Neostigmine; Neuromuscular Junction; Protein Structure, Tertiary; Synaptic Transmission

2005