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Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood.
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- Author(s): Wojciechowska, Katarzyna; Pikulicka, Agata; Drgas, Olga; Brudkowska, Żaneta; Żarnowska, Iwona
- Source:
Polish Journal of Pediatrics / Pediatria Polska; 2023, Vol. 98 Issue 3, p258-263, 6p- Subject Terms:
- Source:
- Additional Information
- Subject Terms:
- Abstract: Alternating hemiplegia of childhood (AHC) is characterized by recurrent hemiplegic episodes and paroxysmal disorders, dystonia, nystagmus, epileptic seizure, mental retardation, and intellectual impairment. Alternating hemiplegia of childhood is caused by pathogenic variants in the genes encoding a-1, -2, and -3 subunits of Na,K-ATPase. Among them, pathogenic variants in ATP1A3 are responsible for almost 80% of cases. The aim of our study was to present a patient with de novo ATP1A2 mutation as the primary cause of AHC and to study the spectrum of phenotypes associated with mutation in this gene. Our study presents a case of a 9-year-old boy who was correctly diagnosed with AHC at the age of 8 years. The example of our patient proves that pathogenic variants in ATP1A2 correlate with milder phenotype. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Polish Journal of Pediatrics / Pediatria Polska is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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