Work

Association between CACNA1A and ATP1A2 Variants are Responsible for Severe Neurodevelopmental Disorder

Year: 2024

Type: article

Abstract: ATP1A2 and CACNA1A genes encode proteins forming transmembrane channels, Na+/K+/ATPase transporter, and voltage-gated calcium channels, respectively. Pathogenic variants in these genes are associated with hemiplegic migraines, movement disorders, and developmental and epileptic encephalopathy. We report a child presenting epileptic encephalopathy with cognitive and behavioral troubles. He carries a likely pathogenic variant in the ATP1A2 gene, inherited from his mother who presents hemiplegic migraines, and a variant of uncertain significance in the CACNA1A gene, inherited from his asymptomatic father and also found in his brother, who presents a milder neurodevelopmental disorder (NDD). No other significant copy number or single nucleotide variations were identified after an in-depth genetic study including whole exome sequencing, array comparative genomic hybridization, and screening for Fragile X and Prader–Willi/Angelman syndromes. We illustrate the synergetic impact of ATP1A2 and CACNA1A genes in NDDs.

Source: Neuropediatrics

DOI: 10.1055/a-2500-7729

Authors: Charlotte Mouraux, Serpil Alkan, Jean-Hubert Caberg, Frédérique Depierreux

Institutions: University of Liège, Centre Hospitalier Universitaire de Liège

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

Funder: Fonds De La Recherche Scientifique - FNRS