Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood
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 α-...
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2023-09-01
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| Series: | Pediatria Polska |
| Subjects: | |
| Online Access: | https://www.termedia.pl/Heterozygous-de-novo-mutation-in-the-ATP1A2-gene-in-a-patient-with-alternating-hemiplegia-of-childhood,127,51573,1,1.html |
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| author | Katarzyna Wojciechowska Agata Pikulicka Olga Drgas Żaneta Brudkowska Iwona Żarnowska |
| author_facet | Katarzyna Wojciechowska Agata Pikulicka Olga Drgas Żaneta Brudkowska Iwona Żarnowska |
| author_sort | Katarzyna Wojciechowska |
| collection | DOAJ |
| description | 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 α-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. |
| first_indexed | 2024-04-24T11:29:03Z |
| format | Article |
| id | doaj.art-975eb3354dec4bedbadbf1ea59d2b514 |
| institution | Directory Open Access Journal |
| issn | 0031-3939 2300-8660 |
| language | English |
| last_indexed | 2024-04-24T11:29:03Z |
| publishDate | 2023-09-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Pediatria Polska |
| spelling | doaj.art-975eb3354dec4bedbadbf1ea59d2b5142024-04-10T12:39:43ZengTermedia Publishing HousePediatria Polska0031-39392300-86602023-09-0198325826310.5114/polp.2023.13176351573Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhoodKatarzyna WojciechowskaAgata PikulickaOlga DrgasŻaneta BrudkowskaIwona ŻarnowskaAlternating 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 α-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.https://www.termedia.pl/Heterozygous-de-novo-mutation-in-the-ATP1A2-gene-in-a-patient-with-alternating-hemiplegia-of-childhood,127,51573,1,1.htmlhemiplegia atp1a2 alternating hemiplegia of childhood. |
| spellingShingle | Katarzyna Wojciechowska Agata Pikulicka Olga Drgas Żaneta Brudkowska Iwona Żarnowska Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood Pediatria Polska hemiplegia atp1a2 alternating hemiplegia of childhood. |
| title | Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood |
| title_full | Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood |
| title_fullStr | Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood |
| title_full_unstemmed | Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood |
| title_short | Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood |
| title_sort | heterozygous de novo mutation in the atp1a2 gene in a patient with alternating hemiplegia of childhood |
| topic | hemiplegia atp1a2 alternating hemiplegia of childhood. |
| url | https://www.termedia.pl/Heterozygous-de-novo-mutation-in-the-ATP1A2-gene-in-a-patient-with-alternating-hemiplegia-of-childhood,127,51573,1,1.html |
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