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Browse result for Poirier-Bienvenu neurodevelopmental syndrome

※ introduction

    Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development (ID). The severity of neurologic impairment is highly variable: some patients may have refractory seizures and be bedridden with no meaningful speech, whereas others may have treatment-responsive seizures and achieve normal psychomotor development (summary by Li et al., 2019).

Reference
OMIM: Poirier-Bienvenu neurodevelopmental syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01693P678701460
CSNK2B
Casein kinase II subunit beta
Homo sapiens