Selmer, K K

Parental SCN1A mutation mosaicism in familial Dravet syndrome. [electronic resource] - Clinical genetics Oct 2009 - 398-403 p. digital

Publication Type: Case Reports; Journal Article

1399-0004

10.1111/j.1399-0004.2009.01208.x doi


Base Sequence
Codon, Nonsense--genetics
Epilepsies, Myoclonic--genetics
Female
Humans
Inheritance Patterns--genetics
Molecular Sequence Data
Mosaicism
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins--genetics
Polymorphism, Restriction Fragment Length
Sequence Analysis, DNA
Siblings
Sodium Channels--genetics