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Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.

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Title: Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.
Authors: Li, Fucheng (AUTHOR), Li, Ru (AUTHOR), Zhang, Yongling (AUTHOR), Jing, Xiangyi (AUTHOR), Liao, Can (AUTHOR)
Source: Neurological Sciences. Apr2023, Vol. 44 Issue 4, p1451-1453. 3p. 1 Diagram.
Subjects: Gene families, Mosaicism, Germ cells, Movement disorders, Genetic mutation, Von Hippel-Lindau disease, Hemiplegia
Abstract: The variant c.2974G > T (p.Asp992Tyr) of I ATP1A3 i has been reported in a 2-year-old patient with isolated infantile onset hemiplegic attacks [[1]], but our patient exhibited classical AHC phenotype at the same age, illustrating the phenotypic variability associated with I ATP1A3 i variants. The identification of I ATP1A3 i variant in conjunction with the clinical characteristics of the proband validated the diagnosis of AHC, which is helpful for the proper management of the patient [[3]]. Alternating hemiplegia of childhood (AHC) (OMIM: 614820), one phenotype of I ATP1A3 i -related disorder, is a rare autosomal dominant neurologic disease characterized by hemiplegia, abnormal eye movement, and paroxysmal dystonia feature, all of which occur in attacks beginning in infancy or early childhood and lasting for minutes to weeks. [Extracted from the article]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. 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.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.
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  Data: <searchLink fieldCode="AR" term="%22Li%2C+Fucheng%22">Li, Fucheng</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Ru%22">Li, Ru</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhang%2C+Yongling%22">Zhang, Yongling</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jing%2C+Xiangyi%22">Jing, Xiangyi</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Liao%2C+Can%22">Liao, Can</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Apr2023, Vol. 44 Issue 4, p1451-1453. 3p. 1 Diagram.
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  Data: <searchLink fieldCode="DE" term="%22Gene+families%22">Gene families</searchLink><br /><searchLink fieldCode="DE" term="%22Mosaicism%22">Mosaicism</searchLink><br /><searchLink fieldCode="DE" term="%22Germ+cells%22">Germ cells</searchLink><br /><searchLink fieldCode="DE" term="%22Movement+disorders%22">Movement disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Von+Hippel-Lindau+disease%22">Von Hippel-Lindau disease</searchLink><br /><searchLink fieldCode="DE" term="%22Hemiplegia%22">Hemiplegia</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: The variant c.2974G > T (p.Asp992Tyr) of I ATP1A3 i has been reported in a 2-year-old patient with isolated infantile onset hemiplegic attacks [[1]], but our patient exhibited classical AHC phenotype at the same age, illustrating the phenotypic variability associated with I ATP1A3 i variants. The identification of I ATP1A3 i variant in conjunction with the clinical characteristics of the proband validated the diagnosis of AHC, which is helpful for the proper management of the patient [[3]]. Alternating hemiplegia of childhood (AHC) (OMIM: 614820), one phenotype of I ATP1A3 i -related disorder, is a rare autosomal dominant neurologic disease characterized by hemiplegia, abnormal eye movement, and paroxysmal dystonia feature, all of which occur in attacks beginning in infancy or early childhood and lasting for minutes to weeks. [Extracted from the article]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. 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.</i> (Copyright applies to all Abstracts.)
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      – Type: doi
        Value: 10.1007/s10072-022-06535-5
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      – Code: eng
        Text: English
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        PageCount: 3
        StartPage: 1451
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      – SubjectFull: Gene families
        Type: general
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      – SubjectFull: Germ cells
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      – SubjectFull: Movement disorders
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      – SubjectFull: Von Hippel-Lindau disease
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      – SubjectFull: Hemiplegia
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            NameFull: Li, Fucheng
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            NameFull: Zhang, Yongling
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              Text: Apr2023
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              Y: 2023
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