Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
hyperekplexia 1
MONDO:0007868
developmental and epileptic encephalopathy, 8
MONDO:0010375
hyperekplexia 2
MONDO:0013828
hyperekplexia 4
MONDO:0044330