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1. Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases We developed, in collaboration with medical teams of the French South-West Reference Center of neuromuscular disorders, a next generation sequencing (NGS) diagnostic strategy of a large panel of genes. In addition to 76 genes implicated in myopathies and muscular dystrophies (M-MDs), 67 genes involved in other neuromuscular phenotypes (congenital myasthenia…)...
2. Copy number variation analysis increases the diagnostic yield of NGS studies in muscle disease patients In the last few years, next generation sequencing methods (NGS) have become the most common method for the genetic diagnosis of disorders characterized by high genetic heterogeneity. We have developed a targeted NGS gene panel MyoCap, which now includes probes for exonic and some intronic sequences of 265 myopathy genes...
3. Mutations in SCN3A cause early infantile epileptic encephalopathy Abstract Objective: Voltage-gated sodium (Na+) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in the nervous system. Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na+ channel pore-forming (α) subunits Nav1.1, 1.2, and 1.6, respectively, and SCN1B, encoding the accessory...
4. Seizure characteristics and the use of anti-epileptic drugs in children and young people with brain tumours and epileptic seizures: Analysis of regional paediatric cancer service population Read More......