TY  - GEN
AU  - Veeramah,Krishna R
AU  - O'Brien,Janelle E
AU  - Meisler,Miriam H
AU  - Cheng,Xiaoyang
AU  - Dib-Hajj,Sulayman D
AU  - Waxman,Stephen G
AU  - Talwar,Dinesh
AU  - Girirajan,Santhosh
AU  - Eichler,Evan E
AU  - Restifo,Linda L
AU  - Erickson,Robert P
AU  - Hammer,Michael F
TI  - De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
SN  - 1537-6605
PY  - 2012///0713
KW  - Adolescent
KW  - Death, Sudden
KW  - etiology
KW  - Epilepsy
KW  - complications
KW  - Exons
KW  - Female
KW  - Gene Frequency
KW  - genetics
KW  - Genome-Wide Association Study
KW  - methods
KW  - Genomic Structural Variation
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Mutation, Missense
KW  - NAV1.6 Voltage-Gated Sodium Channel
KW  - Nerve Tissue Proteins
KW  - Neurons
KW  - metabolism
KW  - Phenotype
KW  - Sequence Analysis, DNA
KW  - Sodium Channels
N1  - 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
UR  - https://doi.org/10.1016/j.ajhg.2012.01.006
ER  -