Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Epilepsia

Volumn 56, Issue 5, 2015, Pages 707-716

  Mercimek Mahmutoglu, Saadet ^a,b   Patel, Jaina ^a   Cordeiro, Dawn ^a   Hewson, Stacy ^a   Callen, David ^c   Donner, Elizabeth J ^a   Hahn, Cecil D ^a   Kannu, Peter ^a,b   Kobayashi, Jeff ^a   Minassian, Berge A ^a,b   Moharir, Mahendranath ^a   Siriwardena, Komudi ^a   Weiss, Shelly K ^a   Weksberg, Rosanna ^a,b   Snead, O Carter ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c MCMASTER UNIVERSITY   (Canada)

Author keywords

Chromosomal; Epilepsy; Genetics; Metabolic disorders; Molecular genetics

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALDEHYDE DEHYDROGENASE; ALDEHYDE DEHYDROGENASE 7A1; BINDING PROTEIN; CADHERIN; COBALAMIN; GLUCOSE TRANSPORTER 1; GLYCINE; POTASSIUM CHANNEL KCNQ2; PROTOCADHERIN 19; PYRIDOXAMINE PHOSPHATE OXIDASE; SLC9A6 PROTEIN; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.6; SYNTAXIN BINDING PROTEIN 1; UNCLASSIFIED DRUG; MUNC18 PROTEIN; PCDH19 PROTEIN, HUMAN; SLC9A2 PROTEIN, HUMAN; SODIUM PROTON EXCHANGE PROTEIN; STXBP1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BIOCHEMISTRY; CHILD; CHILDHOOD; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; EPILEPSY; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; INTRACTABLE EPILEPSY; MAJOR CLINICAL STUDY; MALE; MENKES SYNDROME; METABOLIC DISORDER; NEUROIMAGING; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; PYRIDOXINE DEPENDENT EPILEPSY; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; YOUNG ADULT; COHORT ANALYSIS; COMPLICATION; DEVELOPMENTAL DISORDER; GENETIC PREDISPOSITION; GENETICS; INFANT; MUTATION; PRESCHOOL CHILD; SPASMS, INFANTILE;

ADOLESCENT; CADHERINS; CHILD; CHILD, PRESCHOOL; COGNITION DISORDERS; COHORT STUDIES; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; KCNQ2 POTASSIUM CHANNEL; MALE; MUNC18 PROTEINS; MUTATION; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; SODIUM-HYDROGEN ANTIPORTER; SPASMS, INFANTILE;

EID: 84929510832     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12954     Document Type: Article

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