The phenotypic spectrum of SCN8A encephalopathy
Identifikátory výsledku
Kód výsledku v 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>
Nalezeny alternativní kódy
RIV/00064203:_____/15:10294974
Výsledek na webu
<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>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
The phenotypic spectrum of SCN8A encephalopathy
Popis výsledku v původním jazyce
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
Název v anglickém jazyce
The phenotypic spectrum of SCN8A encephalopathy
Popis výsledku anglicky
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
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
FH - Neurologie, neurochirurgie, neurovědy
OECD FORD obor
—
Návaznosti výsledku
Projekt
—
Návaznosti
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Ostatní
Rok uplatnění
2015
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Neurology
ISSN
0028-3878
e-ISSN
—
Svazek periodika
84
Číslo periodika v rámci svazku
5
Stát vydavatele periodika
US - Spojené státy americké
Počet stran výsledku
10
Strana od-do
480-489
Kód UT WoS článku
000349442200012
EID výsledku v databázi Scopus
2-s2.0-84925375639