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Original Research | Open Access

Clinical features and genetic analysis of two Chinese ATP1A2 gene variants pedigrees of familial hemiplegic migraine

Department of Neurology, Anhui Hospital, Children's Hospital of Fudan University, Hefei 230052, China
National Children's Medical Center (Shanghai) Department of Neurology, Children's Hospital of Fudan University，Shanghai 201102, China
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Abstract

Objective

To analyze the clinical manifestations and genetic examination results of affected members of two Chinese ATP1A2 gene variants pedigrees, and to summarize their phenotypic and genotypic features.

Methods

The clinical features were recorded in detailed. The cranial magnetic resonance imaging for patients and gene sequencing of two Chinese ATP1A2 gene variant pedigrees were perform. The correlation between the types of variants and the clinical phenotypes of ATP1A2 gene were analyzed.

Results

These two pedigrees are diagnosed as familial hemiplegic migraine type 2 (FHM2) with ATP1A2 heterozygous missense variants, c.1091C > T (p.T364M) found in pedigree 1 and c.899T > C (p.L300P) in pedigree 2. Multiple phenotypes coexist in both families, and the two probands have severe cranial magnetic resonance imaging manifesting hemiplegic contralateral cortical swelling and diffusion weighted imaging hyperintense signal, which can be fully recovered. ATP1A2 gene variants were seen in FHM2, sporadic hemiplegic migraine and atypical alternating hemiplegia of childhood (AHC) families or sporadic cases, etc. The clinical features of ATP1A2 variant c.1091C > T (p.T364M) are basically similar in Chinese patients and European patients.

Conclusion

These two Chinese pedigrees had FHM2 due to ATP1A2 heterozygous missense variation. It would expand the understanding of ATP1A2.

Keywords

ATP1A2Familial hemiplegic migraineAlternating hemiplegia of childhoodCranial magnetic resonance imagingPedigree study

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Journal of Neurorestoratology
Volume 11 Issue 2,
June 2023
Article number: 100053
DOI: 10.1016/j.jnrt.2023.100053
Cite this article:
Yang G, Song C, Yang B, et al. Clinical features and genetic analysis of two Chinese ATP1A2 gene variants pedigrees of familial hemiplegic migraine. Journal of Neurorestoratology, 2023, 11(2): 100053. https://doi.org/10.1016/j.jnrt.2023.100053

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Received: 04 January 2023
Revised: 13 February 2023
Accepted: 17 February 2023
Published: 19 April 2023
© 2023 The Authors.

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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