Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: A retrospective study

Clinical Genetics

Volumn 88, Issue 1, 2015, Pages 34-40

  Dyment, D A ^a   Tetreault M ^b   Beaulieu, C L ^a   Hartley, T ^a   Ferreira, P ^b   Chardon, J W ^a   Marcadier, J ^a   Sawyer, S L ^a   Mosca, S J ^b   Innes, A M ^b,c   Parboosingh, J S ^b,c   Bulman, D E ^a   Schwartzentruber, J ^b   Majewski, J ^b   Tarnopolsky, M ^d   Boycott, K M ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF CALGARY   (Canada)

^d MCMASTER CHILDREN S HOSPITAL   (Canada)

Author keywords

Monogenic; Pediatric epilepsy; Phenotypic spectrum; Whole exome sequencing

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; ACID CERAMIDASE; ASAH1 PROTEIN; FOLIC ACID; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; POTASSIUM CHANNEL KCNQ2; PROTEIN; SYNGAP1 PROTEIN; SYNJ1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ASAH1 GENE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN DISEASE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; DRUG RESISTANT EPILEPSY; EPILEPSY; EXOME; FAMILY ASSESSMENT; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; HEALTH CARE QUALITY; HUMAN; INFANT; MOLECULAR DIAGNOSIS; NEWBORN; OUTCOME ASSESSMENT; PATHOGENICITY; PATIENT CARE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; SYNGAP1 GENE; SYNJ1 GENE; WHOLE EXOME SEQUENCE; ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MUTATION; PEDIGREE; PHENOTYPE;

ADOLESCENT; ADULT; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSY; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 84930387639     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12464     Document Type: Article

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