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Panel testing may not be sufficient to reveal the etiology of suspected genetic epilepsy.

作者信息

Finsterer Josef, Scorza Fulvio Alexandre

机构信息

Neurology and Neurophysiology Center - Vienna, Austria.

Unibersidade Federal de São Paulo/Escola Paulista de Medicinal, Neuroscience Discipline - São Paulo (SP), Brazil.

出版信息

Rev Assoc Med Bras (1992). 2024 May 27;70(6):e20231570. doi: 10.1590/1806-9282.20231570. eCollection 2024.

Abstract
摘要

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本文引用的文献

1
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.
Rev Assoc Med Bras (1992). 2023 Oct 9;69(10):e20230547. doi: 10.1590/1806-9282.20230547. eCollection 2023.
2
Stepwise ABC system for classification of any type of genetic variant.
Eur J Hum Genet. 2022 Feb;30(2):150-159. doi: 10.1038/s41431-021-00903-z. Epub 2021 May 13.
3
The mitochondrial epilepsies.
Eur J Paediatr Neurol. 2020 Jan;24:47-52. doi: 10.1016/j.ejpn.2019.12.021. Epub 2020 Jan 7.
5
Epilepsy in mitochondrial disorders.
Seizure. 2012 Jun;21(5):316-21. doi: 10.1016/j.seizure.2012.03.003. Epub 2012 Mar 27.

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