Hyperkalemic periodic paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene

Gyung-Min Lee; June-Bum Kim
June 2011
Neurology Asia;Jun2011, Vol. 16 Issue 2, p163
Academic Journal
Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder. Paramyotonia congenita is also caused by mutations in the SCN4A gene. Here, we report the case of a 17-year-old boy who presented with both hyperkalemic periodic paralysis and paramyotonia congenita. A molecular analysis of the SCN4A gene revealed a heterozygous T>C transition at nucleotide 2078, leading to an Ile693Thr mutation. This mutation was absent in the patient's parents supporting a de novo Ile693Thr mutation in our patient.


Related Articles

  • Genotype-Phenotype Correlation and Therapeutic Rationale in Hyperkalemic Periodic Paralysis Jurkat-Rott, Karin; Lehmann-Horn, Frank // Neurotherapeutics;Apr2007, Vol. 4 Issue 2, p216 

    Summary: Familial hyperkalemic periodic paralysis (PP) is a dominantly inherited muscle disease characterized by attacks of flaccid weakness and intermittent myotonia. Some patients experience muscle stiffness that is aggravated by cold and exercise, bordering on the diagnosis of paramyotonia...

  • Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. Sun, Chen; Tranebjærg, Lisbeth; Torbergsen, Torberg; Holmgren, Gösta; Van Ghelue, Marijke // European Journal of Human Genetics;Dec2001, Vol. 9 Issue 12, p903 

    Myotonia congenita is a non-dystrophic muscle disorder affecting the excitability of the skeletal muscle membrane. It can be inherited either as an autosomal dominant (Thomsen's myotonia) or an autosomal recessive (Becker's myotonia) trait. Both types are characterised by myotonia (muscle...

  • The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias. Ivanova, E.; Dadali, E.; Fedotov, V.; Kurbatov, S.; Rudenskaya, G.; Proskokova, T.; Polyakov, A. // Russian Journal of Genetics;Sep2012, Vol. 48 Issue 9, p952 

    Thomsen's and Becker's diseases are the most prevalent nondystrophic myotonias. Their frequency varies, according to different sources, from 1: 100000 to 1: 10000. Thomsen's myotonia is autosomal dominant, and Becker's myotonia is autosomal recessive. Both diseases result from mutations of the...

  • Molecular mechanisms of ion conduction in CIC-type chloride channels: Lessons from disease-causing mutations. Fahlke, Christoph // Kidney International;Mar2000, Vol. 57 Issue 3, p780 

    Examines the molecular mechanisms of ion conduction in CIC-type chloride channels. Cause of recessive generated myotonia congenita and dominant myotonia; Significance of functional characterization of the naturally occurring mutations; Molecular basis of ion permeation and selection in CIC-type...

  • Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. Morales, Fernando; Cuenca1, Patricia; del Valle, Gerardo; Vásquez, Melissa; Brian, Roberto; Sittenfeld, Mauricio; Johnson, Keith; Xi Lin; Ashizawa, Tetsuo // Revista de Biología Tropical;mar2008, Vol. 56 Issue 1, p1 

    Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition...

  • Paramyotonia congenita with mutation at SCN4A gene. Kulkarni, Rajesh K.; Rathod, Ashok D. // Current Pediatric Research;Jan2010, Vol. 14 Issue 1, p29 

    Paramyotonia Congenita is a rare neuromuscular disorder characterized by paradoxical myotonia. Nine persons affected in a family over three generations are reported. The pro-band, who had the most severe symptoms, responded well to acetazolamide.This is the first report of kindred with...

  • Novel CLCN1 mutations in Taiwanese patients with myotonia congenita. Jou, Shuo-Bin; Chang, Ling-I; Pan, Huichin; Chen, Pei-Ru; Hsiao, Kuang-Ming // Journal of Neurology;Jun2004, Vol. 251 Issue 6, p666 

    We have performed genetic screening on the skeletal muscle chloride channel gene (CLCN1) in Taiwanese population. A total of four patients with myotonia congenita (MC) together with 106 normal individuals were examined. All 23 exons of the CLCN1 gene were analysed by direct sequencing of PCR...

  • ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Kubisch, Christian; Schmidt‐Rose, Thomas; Fontaine, Bertrand; Bretag, Allan H.; Jentsch, Thomas J. // Human Molecular Genetics;Nov98, Vol. 7 Issue 11, p1753 

    Studies CIC-1 chloride channel mutations in myotonia congenita. Four novel missense mutations in dominant and recessive myotonia; Mutations on channel properties in the Xenopus oocyte expression system.

  • Stiff Goats, Chloride Ions, and Idiopathic Generalized Epilepsy (IGE). Noebels, Jeffrey L. // Epilepsy Currents;Jul2003, Vol. 3 Issue 4, p146 

    Comments on a study by K. Haug, M. Warnstedt, A. K. Alekov, et al., which describes the first cases of mutations in a homologous gene family member expressed in human brain, chloride-channel gene CLCN2 and its association with idiopathic generalized epilepsies. Channel defect and seizure...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics