Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10375517" target="_blank" >RIV/00216208:11130/18:10375517 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/18:10375517 RIV/00064165:_____/18:10375517
Result on the web
<a href="https://doi.org/10.1055/s-0038-1626708" target="_blank" >https://doi.org/10.1055/s-0038-1626708</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1055/s-0038-1626708" target="_blank" >10.1055/s-0038-1626708</a>
Alternative languages
Result language
angličtina
Original language name
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins
Original language description
Background Recently, a study providing insight into GABRB3 mutational spectrum was published (Moller et al 2017). The authors report considerable pleiotropy even for single mutations and were not able to identify any genotype-phenotype correlations. Methods The proband (twin B) was referred for massively parallel sequencing of epilepsy-related gene panel because of hypotonia and neonatal seizures. The revealed variant was confirmed with Sanger sequencing in the proband and the twin A, and both parents were tested for the presence of the variant. Results We report a case of epilepsy of infancy with migrating focal seizures (EIMFS) of neonatal onset in monozygotic twins with a de novo novel GABRB3 variant p.Thr281Ala. The variant has a uniform presentation on an identical genomic background. In addition, early seizure-onset epilepsy associated with GABRB3 mutation has been until now described only for the p.Leu256Gln variant in the GABRB3 (Moller et al 2017, Myers et al 2016) located in the transmembrane domain just as the p.Thr281Ala variant described here. Conclusion De novo GABRB3 mutations may cause neonatal-onset EIMFS with early-onset hypotonia, respiratory distress, and severe developmental delay.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/NV15-33041A" target="_blank" >NV15-33041A: Massive parallel sequencing of genes related to infantile epilepsies and epileptic encephalopathies for diagnostics of epilepsy in Czech patients.</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neuropediatrics
ISSN
0174-304X
e-ISSN
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Volume of the periodical
49
Issue of the periodical within the volume
3
Country of publishing house
DE - GERMANY
Number of pages
5
Pages from-to
204-208
UT code for WoS article
000432223800008
EID of the result in the Scopus database
2-s2.0-85042185427