Article
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.
Neuropediatrics - 1 Jun 2018
Štěrbová Katalin, Vlčková Markéta, Klement Petr, Neupauerová Jana, Staněk David, Zůnová Hana, Seeman Pavel, Laššuthová Petra
Abstract excerpt
BACKGROUND: Recently, a study providing insight into GABRB3 mutational spectrum was published (Møller 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...
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