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The phenotypic spectrum of SCN8A encephalopathy

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10294974" target="_blank" >RIV/00216208:11130/15:10294974 - isvavai.cz</a>

  • Alternative codes found

    RIV/00064203:_____/15:10294974

  • Result on the web

    <a href="http://dx.doi.org/10.1212/WNL.0000000000001211" target="_blank" >http://dx.doi.org/10.1212/WNL.0000000000001211</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1212/WNL.0000000000001211" target="_blank" >10.1212/WNL.0000000000001211</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    The phenotypic spectrum of SCN8A encephalopathy

  • Original language description

    Objective:SCN8A encodes the sodium channel voltage-gated 8-subunit (Na(v)1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations.Methods:We used high-throughput sequence analysis of the SCN8A gene in 683 patients with a range of epileptic encephalopathies. In addition, we ascertained cases with SCN8A mutations from other centers. A detailed clinical history was obtained together with a reviewof EEG and imaging data.Results:Seventeen patients with de novo heterozygous mutations of SCN8A were studied. Seizure onset occurred at a mean age of 5 months (range: 1 day to 18 months); in general, seizures were not triggered by fever. Fifteen of 17 patients had multiple seizure types including focal, tonic, clonic, myoclonic and absence seizures, and epileptic spasms; seizures were refractory to antiepileptic therapy. Development was normal in 12 patients and slowed after seizure onse

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FH - Neurology, neuro-surgery, nuero-sciences

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2015

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Neurology

  • ISSN

    0028-3878

  • e-ISSN

  • Volume of the periodical

    84

  • Issue of the periodical within the volume

    5

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    10

  • Pages from-to

    480-489

  • UT code for WoS article

    000349442200012

  • EID of the result in the Scopus database

    2-s2.0-84925375639