[HTML][HTML] Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA
T Boulin, O Itani, S El Mouridi… - Molecular genetics and …, 2021 - Elsevier
Neurobeachin (NBEA) was initially identified as a candidate gene for autism. Recently,
variants in NBEA have been associated with neurodevelopmental delay and childhood
epilepsy. Here, we report on a novel NBEA missense variant (c. 5899G> A, p. Gly1967Arg)
in the Domain of Unknown Function 1088 (DUF1088) identified in a child enrolled in the
Undiagnosed Diseases Network (UDN), who presented with neurodevelopmental delay and
seizures. Modeling of this variant in the Caenorhabditis elegans NBEA ortholog, sel-2 …
variants in NBEA have been associated with neurodevelopmental delay and childhood
epilepsy. Here, we report on a novel NBEA missense variant (c. 5899G> A, p. Gly1967Arg)
in the Domain of Unknown Function 1088 (DUF1088) identified in a child enrolled in the
Undiagnosed Diseases Network (UDN), who presented with neurodevelopmental delay and
seizures. Modeling of this variant in the Caenorhabditis elegans NBEA ortholog, sel-2 …