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To date, the specific causes of multiple sclerosis (MS) remain uncertain, and in its pathogenesis an interaction between environmental and genetic factors has been implicated leading to inflammation, demyelination and neurodegeneration of the central nervous system (CNS). Epidemiological studies
Epilepsy surgery is now an accepted and effective management for individuals with drug resistant focal onset epilepsy in carefully selected candidates. This aside, only two RCTs have been performed in adults in temporal lobe epilepsy [1,2], and none in children . Malformations of cortical
Spinal muscular atrophy is an autosomal recessive disease of varying severity that destroys motor neurons, resulting in atrophy and weakness of the voluntary muscles. Around 95% of the cases demonstrate a homozygous deletion/mutation involving exon 7 in SMN1 (survival motor neuron 1), resulting in
Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects the motoneurons of the spinal anterior corn, resulting in hypotonia and muscle weakness. The knowledge about its molecular mechanism has led to clinical tests with drugs that increase survival motor neuron (SMN) protein
Spinal muscular atrophy (SMA) is a currently untreatable, autosomal recessive motor neuron disease that is caused by deficiency of full-length survival motor neuron (SMN) protein. One promising therapeutic approach to SMA is to pharmacologically increase full-length SMN protein levels. Several