Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing
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DOI: 10.4103/neuroindia.ni_851_16
Abstract: Hyperekplexia is a rare early neonatal onset, potentially treatable, neurological disorder, characterized by a triad of immediate neonatal-onset stiffness, an exaggerated startle reflex in response to tactile or auditory stimuli followed by short periodical generalized… read more here.
Keywords: diagnosis clinched; forgotten diagnosis; hyperekplexia forgotten; next generation ... See more keywords