Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency

Mov Disord Clin Pract. 2024 Apr;11(4):434-437. doi: 10.1002/mdc3.13986. Epub 2024 Jan 31.

Authors

Luca Pollini¹, Carlo Greco¹, Maria Novelli¹, Davide Mei², Francesco Pisani¹, Marina A J De Koning-Tijssen^{3

4}, Renzo Guerrini², Vincenzo Leuzzi¹, Serena Galosi¹

Affiliations

¹ Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
² Neuroscience Department, Children's Hospital Meyer IRCCS, Florence, Italy.
³ Expertise Centre Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.
⁴ Department of Neurology, University Medical Centre Groningen, Groningen, The Netherlands.

PMID: 38293791
PMCID: PMC10982589 (available on 2025-01-31)
DOI: 10.1002/mdc3.13986

No abstract available

Keywords: cortico‐muscular coherence; jerk‐locked back averaging; myoclonus; neurophysiology; startle.

Publication types

Letter

MeSH terms

Electroencephalography
Humans
Myoclonus* / diagnosis
Neurophysiology
Rho Guanine Nucleotide Exchange Factors
Tremor*

Substances

ARHGEF9 protein, human
Rho Guanine Nucleotide Exchange Factors