Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection

General Physiology and Biophysics

Volumn 35, Issue 3, 2016, Pages 333-342

  Surovy, Milan ^a   Soltysova, Andrea ^a,b   Kolnikova, Miriam ^c   Sykora, Pavol ^c   Ilencikova, Denisa ^d   Ficek, Andrej ^a   Radvanszky, Jan ^a,b   Kadasi, Ludevit ^a,b  

^a Physics and Informatics   (Slovakia)

^b INSTITUTE OF CHEMISTRY   (Slovakia)

^c Children's Faculty Hospital   (Slovakia)

^d University Children's Hospital Bratislava   (Slovakia)

Author keywords

Dravet syndrome; Early onset epilepsy; GEFS+; Scn1a

Indexed keywords

GENOMIC DNA; SODIUM CHANNEL NAV1.1; GENETIC MARKER; SCN1A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ANTICONVULSANT THERAPY; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHILD; DIFFERENTIAL DIAGNOSIS; DNA SCREENING; EXON; FAMILY HISTORY; FEBRILE CONVULSION; FEMALE; GENE DELETION; GENERALIZED EPILEPSY; HETEROZYGOTE; HUMAN; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; ONSET AGE; PATIENT SELECTION; PRESCHOOL CHILD; SCHOOL CHILD; SEIZURE; SEQUENCE ANALYSIS; SEVERE MYOCLONIC EPILEPSY IN INFANCY; YOUNG ADULT; EPILEPSIES, MYOCLONIC; EVALUATION STUDY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIATION; GENETICS; INFANT; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PREVALENCE; PROCEDURES; PROGNOSIS; REPRODUCIBILITY; RISK FACTOR; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; SLOVAKIA;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; EPILEPSIES, MYOCLONIC; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; PATIENT SELECTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; PROGNOSIS; REPRODUCIBILITY OF RESULTS; RISK FACTORS; SENSITIVITY AND SPECIFICITY; SLOVAKIA; YOUNG ADULT;

EID: 84974802799     PISSN: 02315882     EISSN: 13384325     Source Type: Journal    
DOI: 10.4149/gpb_2016002     Document Type: Article

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