Novel mutations in SLC6A5 with benign course in hyperekplexia
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DOI: 10.1101/mcs.a004465
Abstract: Infants suffering from life-threatening apnea, stridor, cyanosis, and increased muscle tone may often be misdiagnosed with infantile seizures and inappropriately treated because of lack and delay in genetic diagnosis. Here, we report a patient with… read more here.
Keywords: diagnosis; novel mutations; slc6a5 benign; course hyperekplexia ... See more keywords