PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
rs312262717 in
SPG11 gene and
Gross motor development delay
PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.