De novo heterozygous missense variants inATP11Aare associated with refractory focal epilepsy DOI

Zi-Long Ye,

Nan-Xiang Shen,

Xiang-Yun Luo

и другие.

Journal of Medical Genetics, Год журнала: 2025, Номер unknown, С. jmg - 110540

Опубликована: Апрель 4, 2025

Background ATP11A encodes an integral-membrane type IV P-type-adenosine triphosphatase that plays important role in neural development by maintaining membrane lipid asymmetry. de novo heterozygous missense variants have been reported to be associated with hypomyelinating leukodystrophy; however, the neurological symptoms of patients are often varying. In this study, we aimed explore relationship between and epilepsy. Methods Trio-based whole-exome sequencing was performed on focal Multiple bioinformatics analyses were used predict pathogenicity variants. Previously literature collected analyse relation phenotypes. Results Two identified two unrelated refractory epilepsy predicted pathogenic using multiple analyses. Then, six collected. Half (3/6) located on/near transmembrane regions (TMs) had more severe symptoms, while other half non-TM mild single indicating a correlation variant location phenotype. All showed progressively worsening conditions, potentially due gradually increased expression human brain over time. Conclusion This study suggested Missense variant-associated phenotypes range from epileptic seizures symptoms. It should noted potential.

Язык: Английский

De novo heterozygous missense variants inATP11Aare associated with refractory focal epilepsy DOI

Zi-Long Ye,

Nan-Xiang Shen,

Xiang-Yun Luo

и другие.

Journal of Medical Genetics, Год журнала: 2025, Номер unknown, С. jmg - 110540

Опубликована: Апрель 4, 2025

Background ATP11A encodes an integral-membrane type IV P-type-adenosine triphosphatase that plays important role in neural development by maintaining membrane lipid asymmetry. de novo heterozygous missense variants have been reported to be associated with hypomyelinating leukodystrophy; however, the neurological symptoms of patients are often varying. In this study, we aimed explore relationship between and epilepsy. Methods Trio-based whole-exome sequencing was performed on focal Multiple bioinformatics analyses were used predict pathogenicity variants. Previously literature collected analyse relation phenotypes. Results Two identified two unrelated refractory epilepsy predicted pathogenic using multiple analyses. Then, six collected. Half (3/6) located on/near transmembrane regions (TMs) had more severe symptoms, while other half non-TM mild single indicating a correlation variant location phenotype. All showed progressively worsening conditions, potentially due gradually increased expression human brain over time. Conclusion This study suggested Missense variant-associated phenotypes range from epileptic seizures symptoms. It should noted potential.

Язык: Английский

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