Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

Annals of Neurology

Volumn 78, Issue 2, 2015, Pages 323-328

  Mefford, Heather ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA3; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2;

ARTICLE; COHORT ANALYSIS; COPY NUMBER VARIATION; EXOME; GENE; GENETIC ALGORITHM; GLIS3 GENE; HUMAN; INFANTILE SPASM; KIAA1324L GENE; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; NIPA1 GENE; PATHOGENESIS; PLCG2 GENE; PREDICTIVE VALUE; PRIORITY JOURNAL; RCL1 GENE; RFX3 GENE; SEQUENCE ANALYSIS; SPG7 GENE; YWHAG GENE; ADULT; DNA SEQUENCE; FEMALE; GENETICS; INFANT; MALE; NEWBORN; PARENT; PRESCHOOL CHILD;

ADULT; CHILD, PRESCHOOL; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; EXOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LENNOX GASTAUT SYNDROME; MALE; PARENTS; SEQUENCE ANALYSIS, DNA; SPASMS, INFANTILE;

EID: 84937728425     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24457     Document Type: Article

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