Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency.
作者信息
Pollini Luca, Greco Carlo, Novelli Maria, Mei Davide, Pisani Francesco, De Koning-Tijssen Marina A J, Guerrini Renzo, Leuzzi Vincenzo, Galosi Serena
机构信息
Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Neuroscience Department, Children's Hospital Meyer IRCCS, Florence, Italy.
出版信息
Mov Disord Clin Pract. 2024 Apr;11(4):434-437. doi: 10.1002/mdc3.13986. Epub 2024 Jan 31.
Abstract
摘要
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本文引用的文献
1
Familial adult myoclonus epilepsy: Neurophysiological investigations.
Epilepsia. 2023 Jun;64 Suppl 1:S39-S46. doi: 10.1111/epi.17553. Epub 2023 Mar 8.
2
Myoclonus and other jerky movement disorders.
Clin Neurophysiol Pract. 2022 Oct 6;7:285-316. doi: 10.1016/j.cnp.2022.09.003. eCollection 2022.
3
ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
Mol Genet Genomic Med. 2022 Jul;10(7):e1967. doi: 10.1002/mgg3.1967. Epub 2022 May 31.
4
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6
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
Neurogenetics. 2021 Mar;22(1):87-94. doi: 10.1007/s10048-020-00622-5. Epub 2020 Sep 17.
7
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10
Brainstorm: a user-friendly application for MEG/EEG analysis.
Comput Intell Neurosci. 2011;2011:879716. doi: 10.1155/2011/879716. Epub 2011 Apr 13.
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