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
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Czech description
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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
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Result continuities
Project
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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
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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