Understanding genotypes and phenotypes in epileptic encephalopathies

Molecular Syndromology

Volumn 7, Issue 4, 2016, Pages 172-181

  Helbig, Ingo ^a,b,c   Abou Tayoun, Ahmad N ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF KIEL   (Germany)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Epileptic encephalopathy; Genotypic heterogeneity; Next generation sequencing; Phenotypic heterogeneity; Whole exome sequencing

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; GLUCOSE TRANSPORTER 1; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; POTASSIUM CHANNEL KCNQ2; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.6; VOLTAGE GATED SODIUM CHANNEL BETA 1 SUBUNIT;

BRAIN DISEASE; EXOME; FAMILY STUDY; GENE; GENE IDENTIFICATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANTILE SPASM; INTRACTABLE EPILEPSY; MICROARRAY ANALYSIS; MOLECULAR PATHOLOGY; NEXT GENERATION SEQUENCING; PHENOTYPE; PRIORITY JOURNAL; PRRT2 GENE; REVIEW;

EID: 84983740959     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000448530     Document Type: Review

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