Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064203:_____/18:10375517 RIV/00064165:_____/18:10375517

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

<a href="/cs/project/NV15-33041A" target="_blank" >NV15-33041A: Využití masivně paralelního sekvenování panelu genů spojených s dětskou epilepsií a epileptickou encefalopatií pro diagnostiku příčin epilepsie v ČR</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

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

Název periodika

Neuropediatrics

ISSN

0174-304X

e-ISSN

—

Svazek periodika

49

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

5

Strana od-do

204-208

Kód UT WoS článku

000432223800008

EID výsledku v databázi Scopus

2-s2.0-85042185427