amifampridine has been researched along with Myasthenic Syndromes, Congenital in 17 studies
Amifampridine: 4-Aminopyridine derivative that acts as a POTASSIUM CHANNEL blocker to increase release of ACETYLCHOLINE from nerve terminals. It is used in the treatment of CONGENITAL MYASTHENIC SYNDROMES.
Myasthenic Syndromes, Congenital: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Gene analysis for congenital myasthenic syndrome (CMS) revealed a new mutation in the DOK7 gene; the diagnosis of CMS was confirmed." | 1.40 | [Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy]. ( Mori-Yoshimura, M; Murata, M; Nakata, T; Nishikawa, A; Ohno, K; Okamoto, T; Oya, Y, 2014) |
| "A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported." | 1.39 | Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1. ( Beeson, D; Belaya, K; Burke, G; Cossins, J; Finlayson, S; Holton, JL; Norwood, F; Palace, J; Pascual-Pascual, SI; Walls, TJ, 2013) |
| "Fast channel congenital myasthenic syndromes are rare, but frequently result in severe weakness." | 1.38 | Clinical features in a series of fast channel congenital myasthenia syndrome. ( Bailey, S; Beeson, D; Carr, A; Jayawant, S; Lashley, D; McConville, J; Palace, J; Robb, S, 2012) |
| "Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse." | 1.38 | Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. ( Beeson, D; Belaya, K; Cossins, J; Finlayson, S; Liu, WW; Maslau, S; Maxwell, S; McGowan, SJ; Palace, J; Pascual Pascual, SI; Slater, CR; Twigg, SR; Walls, TJ, 2012) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 5 (29.41) | 29.6817 |
| 2010's | 11 (64.71) | 24.3611 |
| 2020's | 1 (5.88) | 2.80 |
| Authors | Studies |
|---|---|
| Ohno, K | 3 |
| Ohkawara, B | 1 |
| Shen, XM | 1 |
| Selcen, D | 1 |
| Engel, AG | 2 |
| Finlayson, S | 2 |
| Palace, J | 4 |
| Belaya, K | 2 |
| Walls, TJ | 2 |
| Norwood, F | 1 |
| Burke, G | 2 |
| Holton, JL | 1 |
| Pascual-Pascual, SI | 1 |
| Cossins, J | 3 |
| Beeson, D | 4 |
| Maselli, RA | 1 |
| Arredondo, J | 1 |
| Nguyen, J | 1 |
| Lara, M | 1 |
| Ng, F | 1 |
| Ngo, M | 1 |
| Pham, JM | 1 |
| Yi, Q | 1 |
| Stajich, JM | 1 |
| McDonald, K | 1 |
| Hauser, MA | 1 |
| Wollmann, RL | 1 |
| Nishikawa, A | 1 |
| Mori-Yoshimura, M | 1 |
| Okamoto, T | 1 |
| Oya, Y | 1 |
| Nakata, T | 1 |
| Murata, M | 1 |
| Witting, N | 1 |
| Crone, C | 1 |
| Duno, M | 1 |
| Vissing, J | 1 |
| Whittaker, RG | 1 |
| Herrmann, DN | 1 |
| Bansagi, B | 1 |
| Hasan, BA | 1 |
| Lofra, RM | 1 |
| Logigian, EL | 1 |
| Sowden, JE | 1 |
| Almodovar, JL | 1 |
| Littleton, JT | 1 |
| Zuchner, S | 1 |
| Horvath, R | 1 |
| Lochmüller, H | 2 |
| Natera-de Benito, D | 1 |
| Bestué, M | 1 |
| Vilchez, JJ | 1 |
| Evangelista, T | 1 |
| Töpf, A | 1 |
| García-Ribes, A | 1 |
| Trujillo-Tiebas, MJ | 1 |
| García-Hoyos, M | 1 |
| Ortez, C | 1 |
| Camacho, A | 1 |
| Jiménez, E | 1 |
| Dusl, M | 1 |
| Abicht, A | 1 |
| Colomer, J | 1 |
| Nascimento, A | 1 |
| Verma, S | 1 |
| Mazell, SN | 1 |
| Shah, DA | 1 |
| Ishigaki, K | 1 |
| Murakami, T | 1 |
| Ito, Y | 1 |
| Yanagisawa, A | 1 |
| Kodaira, K | 1 |
| Shishikura, K | 1 |
| Suzuki, H | 1 |
| Hirayama, Y | 1 |
| Osawa, M | 1 |
| Argov, Z | 1 |
| Jones, AK | 1 |
| Rayes, D | 1 |
| Al-Diwani, A | 1 |
| Maynard, TP | 1 |
| Jones, R | 1 |
| Hernando, G | 1 |
| Buckingham, SD | 1 |
| Bouzat, C | 1 |
| Sattelle, DB | 1 |
| Lashley, D | 1 |
| Bailey, S | 1 |
| Jayawant, S | 1 |
| Carr, A | 1 |
| McConville, J | 1 |
| Robb, S | 2 |
| Guven, A | 1 |
| Demirci, M | 1 |
| Anlar, B | 1 |
| Slater, CR | 1 |
| Liu, WW | 1 |
| Maxwell, S | 2 |
| McGowan, SJ | 1 |
| Maslau, S | 1 |
| Twigg, SR | 1 |
| Pascual Pascual, SI | 1 |
| Banwell, BL | 1 |
| Sieb, JP | 1 |
| Nicolle, M | 1 |
| Vincent, A | 1 |
| Newsom-Davis, J | 1 |
| Pelufo-Pellicer, A | 1 |
| Monte-Boquet, E | 1 |
| Romá-Sánchez, E | 1 |
| Casanova-Sorní, C | 1 |
| Poveda-Andrés, JL | 1 |
2 reviews available for amifampridine and Myasthenic Syndromes, Congenital
| Article | Year |
|---|---|
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Topics: Albuterol; Amifampridine; Cholinesterase Inhibitors; Humans; Mitochondrial Proteins; Mutation; Myast | 2023 |
Management of myasthenic conditions: nonimmune issues.
Topics: 4-Aminopyridine; Amifampridine; Cholinesterase Inhibitors; Electrodiagnosis; Humans; Myasthenia Grav | 2009 |
1 trial available for amifampridine and Myasthenic Syndromes, Congenital
| Article | Year |
|---|---|
Distinct phenotypes of congenital acetylcholine receptor deficiency.
Topics: 4-Aminopyridine; Adolescent; Adult; Aged; Amifampridine; Cell Line; Child; Child, Preschool; Choline | 2004 |
14 other studies available for amifampridine and Myasthenic Syndromes, Congenital
| Article | Year |
|---|---|
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Topics: 4-Aminopyridine; Adrenergic beta-2 Receptor Agonists; Adult; Age of Onset; Albuterol; Amifampridine; | 2013 |
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
Topics: 4-Aminopyridine; Aged; Amifampridine; Base Sequence; DNA Mutational Analysis; Electromyography; Exom | 2014 |
[Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy].
Topics: 4-Aminopyridine; Adult; Amifampridine; Diagnosis, Differential; Female; Humans; Menstrual Cycle; Mus | 2014 |
Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient.
Topics: 4-Aminopyridine; Aged; Amifampridine; Female; Humans; Muscle Proteins; Mutation; Myasthenic Syndrome | 2015 |
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
Topics: 4-Aminopyridine; Adolescent; Adult; Aged; Amifampridine; Child; Electrophysiological Phenomena; Fema | 2015 |
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
Topics: 4-Aminopyridine; Adolescent; Adult; Amifampridine; Child; Child, Preschool; Cholinesterase Inhibitor | 2016 |
Amifampridine phosphate in congenital myasthenic syndrome.
Topics: 4-Aminopyridine; Amifampridine; Child, Preschool; Electroencephalography; Female; Humans; Male; Muta | 2016 |
[Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency].
Topics: 4-Aminopyridine; Adolescent; Amifampridine; Diagnosis, Differential; Humans; Male; Myasthenic Syndro | 2009 |
A Cys-loop mutation in the Caenorhabditis elegans nicotinic receptor subunit UNC-63 impairs but does not abolish channel function.
Topics: 4-Aminopyridine; Amifampridine; Animals; Caenorhabditis elegans; Caenorhabditis elegans Proteins; Ch | 2011 |
Clinical features in a series of fast channel congenital myasthenia syndrome.
Topics: 4-Aminopyridine; Adult; Amifampridine; Child; Child, Preschool; Humans; Infant; Middle Aged; Muscle | 2012 |
Recurrent COLQ mutation in congenital myasthenic syndrome.
Topics: 4-Aminopyridine; Acetylcholinesterase; Adolescent; Amifampridine; Child; Collagen; DNA Mutational An | 2012 |
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Topics: 4-Aminopyridine; Adult; Amifampridine; Cholinesterase Inhibitors; Female; Glycosylation; Humans; Low | 2012 |
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
Topics: 4-Aminopyridine; Acetylcholine; Action Potentials; Adolescent; Amifampridine; Biopsy; Carrier Protei | 2004 |
Fetal exposure to 3,4-diaminopyridine in a pregnant woman with congenital myasthenia syndrome.
Topics: 4-Aminopyridine; Adult; Amifampridine; Apgar Score; Drug Therapy, Combination; Female; Fetal Develop | 2006 |