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Recurrent status epilepticus and severe bifrontal hypometabolism in PGAP1-related neurodevelopmental disorder.

作者信息

Benabess Samia, Myers Kenneth A

机构信息

Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada.

Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.

出版信息

Epileptic Disord. 2025 Apr;27(2):304-306. doi: 10.1002/epd2.20336. Epub 2025 Feb 1.

DOI:10.1002/epd2.20336
PMID:39891604
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12065118/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15c4/12065118/d4fd458543c7/EPD2-27-304-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15c4/12065118/d4fd458543c7/EPD2-27-304-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15c4/12065118/d4fd458543c7/EPD2-27-304-g001.jpg

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Eur J Med Genet. 2022 May;65(5):104501. doi: 10.1016/j.ejmg.2022.104501. Epub 2022 Apr 1.
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The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
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Orphanet J Rare Dis. 2020 May 28;15(1):129. doi: 10.1186/s13023-020-01401-z.
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Lessons learned from 40 novel PIGA patients and a review of the literature.从 40 例新型 PIGA 患者中吸取的经验教训和文献回顾。
Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26.
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The influence of genetics in congenital diaphragmatic hernia.遗传学对先天性膈疝的影响。
Semin Perinatol. 2020 Feb;44(1):151169. doi: 10.1053/j.semperi.2019.07.008. Epub 2019 Aug 1.
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Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.胎儿畸形综合征外显子组测序：新的表型-基因型发现。
Eur J Hum Genet. 2019 May;27(5):730-737. doi: 10.1038/s41431-018-0324-y. Epub 2019 Jan 24.
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