Work

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature

Year: 2017

Type: article

Abstract: Developmental encephalopathies constitute a broad and genetically heterogeneous spectrum of disorders associated with global developmental delay, intellectual disability, frequent epilepsy, and other neurofunctional abnormalities. Here, we report a male presenting with infantile onset epilepsy and syndromic features resembling Dubowitz syndrome identified to have a de novo PLXNA1 variant by whole exome sequencing. This constitutes the second report of PLXNA1 sequence variation associated with early onset epilepsy, and the first to expand on the clinical features of this emerging disorder. This reports suggests that nonsynonymous de novo sequence variations in PLXNA1 are associated with a novel human phenotype characterized by intractable early onset epilepsy, intellectual disability, and syndromic features.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.38236

Authors: Kaylee Park, Laurie E. Seltzer, Emily Tuttle, Ghayda M. Mirzaa, Alex R. Paciorkowski

Institutions: Seattle Children's Research Institute, University of Rochester Medicine, University of Rochester, University of Washington

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Foundation for the National Institutes of Health, National Institutes of Health, National Institute of Neurological Disorders and Stroke