De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. [electronic resource]
Producer: 20120713Description: 502-10 p. digitalISSN:- 1537-6605
- Adolescent
- Death, Sudden -- etiology
- Epilepsy -- complications
- Exons
- Female
- Gene Frequency -- genetics
- Genome-Wide Association Study -- methods
- Genomic Structural Variation
- Heterozygote
- Humans
- Male
- Mutation, Missense
- NAV1.6 Voltage-Gated Sodium Channel
- Nerve Tissue Proteins -- genetics
- Neurons -- metabolism
- Phenotype
- Sequence Analysis, DNA -- methods
- Sodium Channels -- genetics
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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