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Full-Text Articles in Life Sciences
Myotonia Congenita, Christoph Lossin, Alfred George
Myotonia Congenita, Christoph Lossin, Alfred George
Christoph Lossin, Ph.D.
Myotonia is a symptom of many different acquired and genetic muscular conditions that impair the relaxation phase of muscular contraction. Myotonia congenital is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations invCLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1.The disorder may be transmitted as either an autosomal-dominant or recessive trait with close to 130 currently known mutations. Although this is a rare disorder, elucidation of the pathophysiology underlying myotonia congenital established the importance of sarcolemmal chloride conductance in the control of muscle excitability and demonstrated the first …
A Catalog Of Scn1a Variants, Christoph Lossin
A Catalog Of Scn1a Variants, Christoph Lossin
Christoph Lossin, Ph.D.
Over the past 10 years mutations in voltage-gated sodium channels (Navs) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Nav1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from benign febrile seizures to extremely serious conditions, such as Dravet’s syndrome (SMEI). Despite the wealth of information, mutational analyses are cumbersome, owing to inconsistencies among the Nav1.1 sequences to which different research groups refer. Splicing variability is the core problem: Nav1.1 co-exists in three isoforms, two of them lack 11 or 28 amino acids …