amifampridine has been researched along with Congenital Myasthenia 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.
| 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 Congenital Myasthenia
| 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 Congenital Myasthenia
| 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 Congenital Myasthenia
| 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 |