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本文引用的文献
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Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.
Neurol Genet. 2020 Apr 1;6(3):e418. doi: 10.1212/NXG.0000000000000418. eCollection 2020 Jun.
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A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies.
Epilepsy Curr. 2020 Mar;20(2):90-96. doi: 10.1177/1535759720906118. Epub 2020 Mar 13.
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Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy".
Eur J Paediatr Neurol. 2020 Jan;24:11-14. doi: 10.1016/j.ejpn.2019.12.023. Epub 2019 Dec 31.
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De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Hum Mutat. 2018 Aug;39(8):1070-1075. doi: 10.1002/humu.23550. Epub 2018 May 25.
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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Mol Genet Genomic Med. 2018 Mar;6(2):186-199. doi: 10.1002/mgg3.355. Epub 2018 Jan 4.
6
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21.
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ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.
Epilepsia. 2017 Apr;58(4):512-521. doi: 10.1111/epi.13709. Epub 2017 Mar 8.
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DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2 ubiquitination in breast cancer.
Oncogene. 2017 May 18;36(20):2802-2812. doi: 10.1038/onc.2016.441. Epub 2016 Dec 12.
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Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
Epilepsia. 2016 Jan;57(1):e12-7. doi: 10.1111/epi.13250. Epub 2015 Dec 9.
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The genetic landscape of the epileptic encephalopathies of infancy and childhood.
Lancet Neurol. 2016 Mar;15(3):304-16. doi: 10.1016/S1474-4422(15)00250-1. Epub 2015 Nov 17.
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