Article
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Molecular genetics and metabolism - 1 Jan 2000
Boulin Thomas, Itani Omar, El Mouridi Sonia, Leclercq-Blondel Alice, Gendrel Marie, Macnamara Ellen, Soldatos Ariane, Murphy Jennifer L, Gorman Mark P, Lindsey Anika, Shimada Shino, Turner Darian, Silverman Gary A, Baldridge Dustin, Malicdan May C, Schedl Tim, Pak Stephen C
Abstract excerpt
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...
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