Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy

Acta Neurologica Belgica

Volumn 117, Issue 1, 2017, Pages 131-138

  Gokben, Sarenur ^a   Onay, Huseyin ^a   Yilmaz, Sanem ^a   Atik, Tahir ^a   Serdaroglu, Gul ^a   Tekin, Hande ^a   Ozkinay, Ferda ^a  

^a EGE UNIVERSITY   (Turkey)

Author keywords

Early onset; Epileptic encephalopathy; Genetic background; Targeted next generation sequencing

Indexed keywords

ARISTALESS RELATED HOMEOBOX; CONTACTIN ASSOCIATED PROTEIN LIKE 2; CYCLIN DEPENDENT KINASE 5; FOLATE RECEPTOR 1; FORKHEAD BOX G1; LAMININ SUBUNIT GAMMA 3; METHYL CPG BINDING DOMAIN PROTEIN 5; METHYL CPG BINDING PROTEIN 2; NETRIN 1; PEPTIDES AND PROTEINS; POLYNUCLEOTIDE KINASE 3 PHOSPHATASE; POTASSIUM CHANNEL KCNQ2; PROTOCADHERIN 19; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SYNTAXIN BINDING PROTEIN 1; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL BETA 1 SUBUNIT;

ARTICLE; BRAIN DISEASE; CHILD; CLINICAL ARTICLE; DIAGNOSTIC VALUE; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; FEMALE; GENE FREQUENCY; GENE MUTATION; HUMAN; INFANT; INTELLIGENCE QUOTIENT; MALE; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERINATAL ASPHYXIA; PRESCHOOL CHILD; SCHOOL CHILD; SEQUENCE ANALYSIS; SEVERE MYOCLONIC EPILEPSY IN INFANCY; WECHSLER MEMORY SCALE; ADOLESCENT; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANTILE SPASM; MUTATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MUTATION; SPASMS, INFANTILE;

EID: 84991105252     PISSN: 03009009     EISSN: 22402993     Source Type: Journal    
DOI: 10.1007/s13760-016-0709-z     Document Type: Article

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