Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood

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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Bibliographic Details
Main Authors: Katarzyna Wojciechowska, Agata Pikulicka, Olga Drgas, Żaneta Brudkowska, Iwona Żarnowska
Format: Article
Language:English
Published: Termedia Publishing House 2023-09-01
Series:Pediatria Polska
Subjects:
hemiplegia
atp1a2
alternating hemiplegia of childhood.
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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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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