Association between CACNA1A and ATP1A2 Variants are Responsible for Severe Neurodevelopmental Disorder.
| Autor: | Mouraux C; GIGA - Cyclotron Research Center (CRC) - Rare Movement Disorders Research Group, University of Liège, Liège, Belgium.; Department of Human Genetics, University Hospital of Liège, Liège, Belgium., Alkan S; Department of Human Genetics, University Hospital of Liège, Liège, Belgium.; Department of Pediatrics, University Hospital of Liège, Liège, Belgium., Caberg JH; Department of Human Genetics, University Hospital of Liège, Liège, Belgium., Depierreux F; GIGA - Cyclotron Research Center (CRC) - Rare Movement Disorders Research Group, University of Liège, Liège, Belgium.; Department of Neurology, University Hospital of Liège, Liège, Belgium. |
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| Jazyk: | angličtina |
| Zdroj: | Neuropediatrics [Neuropediatrics] 2024 Dec 27. Date of Electronic Publication: 2024 Dec 27. |
| DOI: | 10.1055/a-2500-7729 |
| Abstrakt: | 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. Competing Interests: None declared. (Thieme. All rights reserved.) |
| Databáze: | MEDLINE |
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