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

Surovy, Milan; Soltysova, Andrea; Kolnikova, Miriam; Sykora, Pavol; Ilencikova, Denisa; Ficek, Andrej; Radvanszky, Jan; Kadasi, Ludevit

Surovy, Milan; Soltysova, Andrea; Kolnikova, Miriam; Sykora, Pavol; Ilencikova, Denisa; Ficek, Andrej; Radvanszky, Jan; Kadasi, Ludevit.

Affiliation

Surovy M; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Mlynska dolina Bratislava, 842 15 Slovak Republic. milan.surovy015@gmail.com.

Gen Physiol Biophys ; 35(3): 333-42, 2016 Jul.

Article in En | MEDLINE | ID: mdl-27045673

Subject(s)

Epilepsies, Myoclonic/diagnosis; Epilepsies, Myoclonic/genetics; Genetic Testing/methods; NAV1.1 Voltage-Gated Sodium Channel/genetics; Patient Selection; Polymorphism, Single Nucleotide/genetics; Adolescent; Adult; Base Sequence; Child; Child, Preschool; Epilepsies, Myoclonic/epidemiology; Female; Genetic Markers/genetics; Genetic Predisposition to Disease/epidemiology; Genetic Predisposition to Disease/genetics; Genetic Variation/genetics; Humans; Infant; Male; Molecular Sequence Data; Prevalence; Prognosis; Reproducibility of Results; Risk Factors; Sensitivity and Specificity; Slovakia/epidemiology; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Epilepsies, Myoclonic / Patient Selection / Polymorphism, Single Nucleotide / NAV1.1 Voltage-Gated Sodium Channel Type of study: Diagnostic_studies / Etiology_studies / Evaluation_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Europa Language: En Journal: Gen Physiol Biophys Year: 2016 Type: Article

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