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Re: Getting Answers when the symptoms don't match the genetics

Hi, lou
I checked the LOVD (Leiden Open Variation Database).
The SCN4a (xxDNA change)p.Val781Ile defect has been reported once
as producing hypokalemic periodic paralysis.

The database lists a number of DNA changes that produce the same amino acid change.
Thanks, Joe

chromium.liacs.nl/LOVD2/variants.php?select_db=SCN4A&action=view_all&order=Variant%2FDNA%2CASC&hide_col=&show_col=&limit=250

That string deliberately does not produce a link but if you copy it into your address bar with or without "http://" as appropriate it should take you to
the right place.

Type of Myotonia: SCN4a

Country: US