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

doi:10.4149/gpb_2016002

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Article

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

General physiology and biophysics - 1 Jul 2016

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

Abstract excerpt

Voltage-gated sodium channels are essential for generation and propagation of the action potential mainly in nerve and muscle cells. Causative variants in SCN1A gene which codes the main, pore-forming subunit of the channel expressed in central nervous system are associated predominantly with Dravet syndrome (DS), as well as with generalized epilepsy with febrile seizures plus (GEFS+) making it one of the most...

Topics

Adolescent
Adult
Base Sequence
Child
Child, Preschool
Epilepsies, Myoclonic
Female
Genetic Markers
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant

Male

Molecular Sequence Data

NAV1.1 Voltage-Gated Sodium Channel

Patient Selection

Polymorphism, Single Nucleotide

Source

Open in PubMed

Identifiers

PMID: 27045673
DOI: 10.4149/gpb_2016002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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