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carbamazepine and Chondrodystrophic Myotonia

carbamazepine has been researched along with Chondrodystrophic Myotonia in 8 studies

Carbamazepine: A dibenzazepine that acts as a sodium channel blocker. It is used as an anticonvulsant for the treatment of grand mal and psychomotor or focal SEIZURES. It may also be used in the management of BIPOLAR DISORDER, and has analgesic properties.
carbamazepine : A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant.

Research Excerpts

ExcerptRelevanceReference
"Carbamazepine was used as an anti-myotonic agent in three cases with the Schwartz-Jampel syndrome."5.29Improvement of myotonia with carbamazepine in three cases with the Schwartz-Jampel syndrome. ( Gücüyener, K; Okan, M; Serdaroğlu, A; Topaloğlu, H; Topçu, M, 1993)
"Oral carbamazepine therapy was initiated and 1."1.51Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation. ( Albayrak, HM; Gürbüz, G, 2019)
"We report an infant with moyamoya disease and recurrent stroke presenting 10 months after diagnosis (at age 18 months), and discuss the outcome of nonsurgical medical management."1.38Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). ( Alanay, Y; Boduroğlu, K; Cetin, M; Haliloğlu, G; Kılıç, E; Oğuz, KK; Unal, S; Utine, E, 2012)
"Carbamazepine was used as an anti-myotonic agent in three cases with the Schwartz-Jampel syndrome."1.29Improvement of myotonia with carbamazepine in three cases with the Schwartz-Jampel syndrome. ( Gücüyener, K; Okan, M; Serdaroğlu, A; Topaloğlu, H; Topçu, M, 1993)
"Treatment with carbamazepine, initiated at age 7 months (corrected age of 5 months) has produced marked and continued resolution of myotonia, lessened malformation of her bell-shaped chest, and developmental progress."1.29Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine. ( Prangley, J; Squires, LA, 1996)

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (25.00)18.2507
2000's2 (25.00)29.6817
2010's4 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Gürbüz, G1
Albayrak, HM1
Forouhan, M1
Sonntag, S1
Boot-Handford, RP1
Dai, L1
Fang, F1
Huang, Y1
Cheng, H1
Ren, C1
Kılıç, E1
Utine, E1
Unal, S1
Haliloğlu, G1
Oğuz, KK1
Cetin, M1
Boduroğlu, K1
Alanay, Y1
Reed, UC1
Reimao, R1
Espindola, AA1
Kok, F1
Ferreira, LG1
Resende, MB1
Messias, TC1
Carvalho, MS1
Diament, A1
Scaff, M1
Marie, SK1
Ho, NC1
Sandusky, S1
Madike, V1
Francomano, CA1
Dalakas, MC1
Topaloğlu, H1
Serdaroğlu, A1
Okan, M1
Gücüyener, K1
Topçu, M1
Squires, LA1
Prangley, J1

Reviews

1 review available for carbamazepine and Chondrodystrophic Myotonia

ArticleYear
[Clinical and genetic features of Schwartz-Jampel syndrome in a Chinese child: case report and literature review].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2015, Volume: 53, Issue:11

    Topics: Asian People; Carbamazepine; Child; Child, Preschool; Exons; Female; Heterozygote; Humans; Infant; I

2015

Other Studies

7 other studies available for carbamazepine and Chondrodystrophic Myotonia

ArticleYear
Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.
    The Turkish journal of pediatrics, 2019, Volume: 61, Issue:6

    Topics: Anticonvulsants; Carbamazepine; Child, Preschool; DNA; DNA Mutational Analysis; Female; Heparan Sulf

2019
Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.
    Human molecular genetics, 2018, 11-15, Volume: 27, Issue:22

    Topics: Animals; Carbamazepine; Chondrocytes; Codon, Nonsense; Collagen Type X; Disease Models, Animal; Endo

2018
Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).
    European journal of pediatrics, 2012, Volume: 171, Issue:10

    Topics: Antigens; Carbamazepine; Dwarfism; Female; Fetal Growth Retardation; Heparin, Low-Molecular-Weight;

2012
Schwartz-Jampel syndrome: report of five cases.
    Arquivos de neuro-psiquiatria, 2002, Volume: 60, Issue:3-B

    Topics: Adolescent; Anticonvulsants; Carbamazepine; Child; Female; Follow-Up Studies; Humans; Infant; Male;

2002
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
    BMC neurology, 2003, Jul-02, Volume: 3

    Topics: Abnormalities, Multiple; Alleles; Alternative Splicing; Carbamazepine; Child; DNA Mutational Analysi

2003
Improvement of myotonia with carbamazepine in three cases with the Schwartz-Jampel syndrome.
    Neuropediatrics, 1993, Volume: 24, Issue:4

    Topics: Blepharospasm; Carbamazepine; Child; Child, Preschool; Female; Humans; Locomotion; Male; Myotonia; N

1993
Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine.
    Pediatric neurology, 1996, Volume: 15, Issue:2

    Topics: Anticonvulsants; Carbamazepine; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Infant,

1996