dc.contributor |
EFOP |
|
dc.contributor |
Nemzeti Kutatási, Fejlesztési és Innovációs Hivatal |
|
dc.contributor |
Gazdaságfejlesztési és Innovációs Operatív Program |
|
dc.contributor.author |
Till, Ágnes |
|
dc.contributor.author |
Zima, Judith |
|
dc.contributor.author |
Fekete, Anett |
|
dc.contributor.author |
Bene, Judit |
|
dc.contributor.author |
Czakó, Márta |
|
dc.contributor.author |
Szabó, András |
|
dc.contributor.author |
Melegh, Béla |
|
dc.contributor.author |
Hadzsiev, Kinga |
|
dc.date.accessioned |
2021-04-15T10:19:14Z |
|
dc.date.available |
2021-04-15T10:19:14Z |
|
dc.date.issued |
2020 |
|
dc.identifier |
85075265057 |
|
dc.identifier.citation |
journalVolume=74;journalTitle=SEIZURE-EUROPEAN JOURNAL OF EPILEPSY;pagerange=8-13;journalAbbreviatedTitle=SEIZURE-EUR J EPILEP; |
|
dc.identifier.uri |
http://repo.lib.semmelweis.hu//handle/123456789/8263 |
|
dc.identifier.uri |
doi:10.1016/j.seizure.2019.10.019 |
|
dc.description.abstract |
The vast majority of mutations responsible for epilepsy syndromes such as genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS) occur in the gene encoding the type 1 alpha subunit of neuronal voltage-gated sodium channel (SCN1A).63 individuals presenting with either DS or GEFS + syndrome phenotype were screened for SCN1A gene mutation using Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA).Our research study identified 15 novel pathogen mutations in the SCN1A gene of which 12 appeared to be missense mutations with addition of two frameshift-deletions and one in-frame deletion. The distribution of clinical phenotypes in patients carrying SCN1A mutations was as follows: twelve patients had classical DS, three patients had GEFS + syndrome and two relatives of DS patients were suffering from febrile seizures.Our study highlights the phenotypic and genotypic heterogeneities of DS and GEFS + with the important aim of gaining a deeper understanding of SCN1A-related disorders. This study also represents the first genetic analysis of the SCN1A gene in a Hungarian cohort with the DS and GEFS + syndrome phenotype. |
|
dc.format.extent |
8-13 |
|
dc.relation.ispartof |
urn:issn:1059-1311 |
|
dc.title |
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy |
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dc.type |
Journal Article |
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dc.date.updated |
2020-05-08T08:06:21Z |
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dc.language.rfc3066 |
en |
|
dc.rights.holder |
NULL |
|
dc.identifier.mtmt |
30942306 |
|
dc.identifier.wos |
000513294000002 |
|
dc.identifier.pubmed |
31765958 |
|
dc.contributor.department |
SE/AOK/K/I. Sz. Gyermekgyógyászati Klinika |
|
dc.contributor.institution |
Semmelweis Egyetem |
|