Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes

(2016) Hideki Kato et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Translational approach to address therapy in myotonia permanens due to a newSCN4Amutation

(2016) Jean-François Desaphy et al.   NEUROLOGY

SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype

(2015) E. Bugiardini et al.   NEUROMUSCULAR DISORDERS

Muscle channelopathies

(2014) Karen Suetterlin et al.   CURRENT OPINION IN NEUROLOGY

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia

(2014) A. Furby et al.   NEUROMUSCULAR DISORDERS

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes

(2013) Jaya R. Trivedi et al.   BRAIN

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

(2013) Jean-François Desaphy et al.   EXPERIMENTAL NEUROLOGY

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

(2013) Raffaella Brugnoni et al.   JOURNAL OF HUMAN GENETICS

Nongenomic actions of progesterone and 17β-estradiol on the chloride conductance of skeletal muscle

(2013) James a. Burge et al.   MUSCLE & NERVE

Prevalence study of genetically defined skeletal muscle channelopathies in England

(2013) A. Horga et al.   NEUROLOGY

Extracellular magnesium and calcium reduce myotonia in ClC-1 inhibited rat muscle

(2013) Martin Skov et al.   NEUROMUSCULAR DISORDERS

Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy

(2012) Jean-François Desaphy et al.   EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

(2012) Rosanna Cardani et al.   JOURNAL OF NEUROLOGY

Refined exercise testing can aid dna-based diagnosis in muscle channelopathies

(2011) S. Veronica Tan et al.   ANNALS OF NEUROLOGY

Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita

(2011) Anna Modoni et al.   JOURNAL OF CLINICAL NEUROPHYSIOLOGY

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

(2011) María J. Mazón et al.   NEUROMUSCULAR DISORDERS

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

(2010) C Sun et al.   CLINICAL GENETICS

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment

(2009) E. Matthews et al.   BRAIN

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

(2008) Sébastien Gay et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A