Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Journal of Medical Genetics

Volumn 53, Issue 5, 2016, Pages 310-317

  Trump, Natalie ^a   McTague, Amy ^a,b   Brittain, Helen ^a   Papandreou, Apostolos ^a,b   Meyer, Esther ^a,b   Ngoh, Adeline ^a,b   Palmer, Rodger ^a   Morrogh, Deborah ^a   Boustred, Christopher ^a   Hurst, Jane A ^a   Jenkins, Lucy ^a   Kurian, Manju A ^a,b   Scott, Richard H ^a,b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA3; ATP1A3 PROTEIN; CDKL5 PROTEIN; EHMT1 PROTEIN; FOXG1 PROTEIN; GLUCOSE TRANSPORTER 1; KCNT1 GENE; LGI1 PROTEIN; MBD5 PROTEIN; METHYL CPG BINDING PROTEIN 2; MONOCARBOXYLATE TRANSPORTER 8; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; NICOTINIC RECEPTOR ALPHA4; NICOTINIC RECEPTOR BETA2; PCDH19 PROTEIN; PIGA PROTEIN; POTASSIUM CHANNEL KCNQ2; PROTEIN; PRRT2 PROTEIN; SLC9A6 PROTEIN; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.6; STXBP1 PROTEIN; UBE3A PROTEIN; UNCLASSIFIED DRUG; ZEB2 PROTEIN;

ARTICLE; BRAIN DISEASE; CLINICAL FEATURE; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY; EARLY ONSET EPILEPSY; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENE PANEL ANALYSIS; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INFANT; INFANTILE SPASM; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; ONSET AGE; PRIORITY JOURNAL; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; CHILD; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; GENETICS; METABOLISM; MUTATION; NEWBORN; PRESCHOOL CHILD; SEIZURES;

CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; SEIZURES;

EID: 84969571238     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103263     Document Type: Article

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