Parental SCN1A mutation mosaicism in familial Dravet syndrome. [electronic resource]
Producer: 20100105Description: 398-403 p. digitalISSN:- 1399-0004
- 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
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Publication Type: Case Reports; Journal Article
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