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New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene
Myotonia is rare in newborns, and not well-known. Mutations of the skeletal muscle sodium channel gene SCN4A are associated with several neuromuscular disorders including sodium channel myotonias. WeExpand
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KCNQ2 encephalopathy: A case due to a de novo deletion
KCNQ2 encephalopathy is characterized by severely abnormal EEG, neonatal-onset epilepsy and developmental delay. It is caused by mutations (typically missense) in the KCNQ2 gene, encoding the voltageExpand
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CMV-associated axonal sensory-motor Guillain-Barré syndrome in a child: Case report and review of the literature.
BACKGROUND Guillain-Barré syndrome is the most frequent cause of flaccid paresis in Western countries. Moreover, CMV infection is the most common antecedent viral infection in adult patients and theExpand
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Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis
Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset of rapid motor and cognitive regression and hypotonia evolving into spasticity. RecessivelyExpand
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Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.
BACKGROUND Mutations in the gene PRRT2 have been identified in a variety of early-onset paroxysmal disorders. To date associations between PRRT2 mutations and benign myoclonus of early infancy haveExpand
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Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene
BackgroundHereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motorExpand
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Steroids efficacy in the acute management of seizure clusters in one case of PCDH19 female epilepsy
We read with great interest the paper entitled ‘‘Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy’’ by Higurashi et al. [1]. Clusters of febrile and afebrileExpand
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