Toward precision medicine in myotonic syndromes

被引:9
作者
De Bellis, Michela [1 ]
Camerino, Diana Conte [1 ]
Desaphy, Jean-Francois [1 ]
机构
[1] Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy
关键词
rare disease; myotonia; sodium channels; mexiletine; precision medicine; Neuroscience; SODIUM-CHANNELS; TOCAINIDE; BLOCKERS; MEXILETINE; PERMANENS;
D O I
10.18632/oncotarget.15263
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
引用
收藏
页码:14279 / 14280
页数:2
相关论文
共 8 条
[1]   Increased sodium channel use-dependent inhibition by a new potent analogue of tocainide greatly enhances in vivo antimyotonic activity [J].
De Bellis, Michela ;
Carbonara, Roberta ;
Roussel, Julien ;
Farinato, Alessandro ;
Massari, Ada ;
Pierno, Sabata ;
Muraglia, Marilena ;
Corbo, Filomena ;
Franchini, Carlo ;
Carratu, Maria Rosaria ;
De Luca, Annamaria ;
Camerino, Diana Conte ;
Desaphy, Jean-Francois .
NEUROPHARMACOLOGY, 2017, 113 :206-216
[2]   Combined Modifications of Mexiletine Pharmacophores for New Lead Blockers of Nav1.4 Channels [J].
De Bellis, Michela ;
De Luca, Annamaria ;
Desaphy, Jean F. ;
Carbonara, Roberta ;
Heiny, Judith A. ;
Kennedy, Ann ;
Carocci, Alessia ;
Cavalluzzi, Maria M. ;
Lentini, Giovanni ;
Franchini, Carlo ;
Camerino, Diana Conte .
BIOPHYSICAL JOURNAL, 2013, 104 (02) :344-354
[3]   Searching for novel anti-myotonic agents: Pharmacophore requirement for use-dependent block of skeletal muscle sodium channels by N-benzylated cyclic derivatives of tocainide [J].
De Luca, Annamaria ;
De Bellis, Michela ;
Corbo, Filomena ;
Franchini, Carlo ;
Muraglia, Marilena ;
Catalano, Alessia ;
Carocci, Alessia ;
Camerino, Diana Conte .
NEUROMUSCULAR DISORDERS, 2012, 22 (01) :56-65
[4]   Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation [J].
Desaphy, Jean-Francois ;
Carbonara, Roberta ;
D'Amico, Adele ;
Modoni, Anna ;
Roussel, Julien ;
Imbrici, Paola ;
Pagliarani, Serena ;
Lucchiari, Sabrina ;
Lo Monaco, Mauro ;
Camerino, Diana Conte .
NEUROLOGY, 2016, 86 (22) :2100-2108
[5]   Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses promising antimyotonic drugs [J].
Desaphy, Jean-Francois ;
Carbonara, Roberta ;
Costanza, Teresa ;
Camerino, Diana Conte .
EXPERIMENTAL NEUROLOGY, 2014, 255 :96-102
[6]   Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy [J].
Desaphy, Jean-Francois ;
Modoni, Anna ;
LoMonaco, Mauro ;
Camerino, Diana Conte .
EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY, 2013, 69 (04) :1037-1039
[7]   N-Aryl-2,6-dimethylbenzamides, a New Generation of Tocainide Analogues as Blockers of Skeletal Muscle Voltage-Gated Sodium Channels [J].
Muraglia, Marilena ;
De Bellis, Michela ;
Catalano, Alessia ;
Carocci, Alessia ;
Franchini, Carlo ;
Carrieri, Antonio ;
Fortugno, Cecilia ;
Bertucci, Carlo ;
Desaphy, Jean-Francois ;
De Luca, Annamaria ;
Camerino, Diana Conte ;
Corbo, Filomena .
JOURNAL OF MEDICINAL CHEMISTRY, 2014, 57 (06) :2589-2600
[8]   Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies [J].
Suetterlin, Karen Joan ;
Bugiardini, Enrico ;
Kaski, Juan P. ;
Morrow, Jasper M. ;
Matthews, Emma ;
Hanna, Michael G. ;
Fialho, Doreen .
JAMA NEUROLOGY, 2015, 72 (12) :1531-1533