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Neurophysiology of myoclonus and progressive myoclonus epilepsies.
Avanzini G, Shibasaki H, Rubboli G, Canafoglia L, Panzica F, Franceschetti S, Hallett M. Avanzini G, et al. Epileptic Disord. 2016 Sep 1;18(S2):11-27. doi: 10.1684/epd.2016.0835. Epileptic Disord. 2016. PMID: 27702708 Review.
The high temporal resolution of neurophysiological recordings makes them particularly suited to faithfully describing the time course of rapid events such as myoclonus and to precisely measure its time relationship with other related activities. In progressive myoclonus ep …
The high temporal resolution of neurophysiological recordings makes them particularly suited to faithfully describing the time course …
Myoclonus in the critically ill: Diagnosis, management, and clinical impact.
Sutter R, Ristic A, Rüegg S, Fuhr P. Sutter R, et al. Clin Neurophysiol. 2016 Jan;127(1):67-80. doi: 10.1016/j.clinph.2015.08.009. Epub 2015 Aug 29. Clin Neurophysiol. 2016. PMID: 26428447 Review.
Although there are several types of myoclonus, they remain underappreciated, and their diagnostic and prognostic associations are largely ignored. This review discusses clinical, electrophysiological, neuroanatomical, and neuroimaging characteristics of different types of …
Although there are several types of myoclonus, they remain underappreciated, and their diagnostic and prognostic associations are lar …
Differential diagnosis of familial adult myoclonic epilepsy.
Baykan B, Franceschetti S, Canafoglia L, Cavalleri GL, Michelucci R, Scheffer IE. Baykan B, et al. Epilepsia. 2023 Jun;64 Suppl 1:S52-S57. doi: 10.1111/epi.17536. Epub 2023 Feb 21. Epilepsia. 2023. PMID: 36751956
Signs of cortical hyperexcitability may be seen, such as an increased amplitude of somatosensory evoked potentials or enhanced cortical reflex to sensory stimuli, together with the neurophysiological pattern of the movement disorder. SIGNIFICANCE: Recognition of FAME will inform …
Signs of cortical hyperexcitability may be seen, such as an increased amplitude of somatosensory evoked potentials or enhanced cortical refl …
Movement-activated cortical myoclonus in Dravet syndrome.
Canafoglia L, Ragona F, Panzica F, Piazza E, Freri E, Binelli S, Scaioli V, Avanzini G, Granata T, Franceschetti S. Canafoglia L, et al. Epilepsy Res. 2017 Feb;130:47-52. doi: 10.1016/j.eplepsyres.2017.01.007. Epub 2017 Jan 19. Epilepsy Res. 2017. PMID: 28126647
CONCLUSIONS: The cortical myoclonus consistently observed in patients with DS shows features that are similar to those characterizing progressive myoclonus epilepsy, but differs because it does not have a severely worsening course and is not commonly associated with increa …
CONCLUSIONS: The cortical myoclonus consistently observed in patients with DS shows features that are similar to those characterizing progre …
Electrophysiologic testing aids diagnosis and subtyping of myoclonus.
Zutt R, Elting JW, van Zijl JC, van der Hoeven JH, Roosendaal CM, Gelauff JM, Peall KJ, Tijssen MAJ. Zutt R, et al. Neurology. 2018 Feb 20;90(8):e647-e657. doi: 10.1212/WNL.0000000000004996. Epub 2018 Jan 19. Neurology. 2018. PMID: 29352095 Free PMC article.
Progressive myoclonus ataxia: Time for a new definition?
van der Veen S, Zutt R, Elting JWJ, Becker CE, de Koning TJ, Tijssen MAJ. van der Veen S, et al. Mov Disord. 2018 Aug;33(8):1281-1286. doi: 10.1002/mds.27412. Epub 2018 Aug 25. Mov Disord. 2018. PMID: 30145808 Free PMC article.
In 93% of the progressive myoclonus ataxia patients, ataxia started first (median 2 years) followed by myoclonus (4 years) and finally infrequent epilepsy (9.3 years), with a progressive course in 93%. In 64% of the progressive myoclonus ataxia patients, a genetic underlyi …
In 93% of the progressive myoclonus ataxia patients, ataxia started first (median 2 years) followed by myoclonus (4 years) and finally infre …
Low-dose perampanel improves refractory cortical myoclonus by the dispersed and suppressed paroxysmal depolarization shifts in the sensorimotor cortex.
Oi K, Neshige S, Hitomi T, Kobayashi K, Tojima M, Matsuhashi M, Shimotake A, Fujii D, Matsumoto R, Kasama S, Kanda M, Wada Y, Maruyama H, Takahashi R, Ikeda A. Oi K, et al. Clin Neurophysiol. 2019 Oct;130(10):1804-1812. doi: 10.1016/j.clinph.2019.07.006. Epub 2019 Jul 19. Clin Neurophysiol. 2019. PMID: 31401489
An Italian multicentre study of perampanel in progressive myoclonus epilepsies.
Canafoglia L, Barbella G, Ferlazzo E, Striano P, Magaudda A, d'Orsi G, Martino T, Avolio C, Aguglia U, Sueri C, Giuliano L, Sofia V, Zibordi F, Ragona F, Freri E, Costa C, Nardi Cesarini E, Fanella M, Rossi Sebastiano D, Riguzzi P, Gambardella A, Di Bonaventura C, Michelucci R, Granata T, Bisulli F, Licchetta L, Tinuper P, Beccaria F, Visani E, Franceschetti S. Canafoglia L, et al. Epilepsy Res. 2019 Oct;156:106191. doi: 10.1016/j.eplepsyres.2019.106191. Epub 2019 Aug 16. Epilepsy Res. 2019. PMID: 31446282
Logistic regression analysis was used to identify the factors potentially predicting treatment efficacy. Four patients dropped out in the first two months due to psychiatric side effects. ...
Logistic regression analysis was used to identify the factors potentially predicting treatment efficacy. Four patients dropped out in …
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
Koens LH, Kuiper A, Coenen MA, Elting JW, de Vries JJ, Engelen M, Koelman JH, van Spronsen FJ, Spikman JM, de Koning TJ, Tijssen MA. Koens LH, et al. Orphanet J Rare Dis. 2016 Sep 1;11(1):121. doi: 10.1186/s13023-016-0502-3. Orphanet J Rare Dis. 2016. PMID: 27581084 Free PMC article.
Two others presented with psychosis. Four experienced cognitive deficits early in the course of the disease. Patients showed cognitive deficits in all investigated domains. ...
Two others presented with psychosis. Four experienced cognitive deficits early in the course of the disease. Patients showed cognitiv …
Familial cortical myoclonus with a mutation in NOL3.
Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptáček LJ. Russell JF, et al. Ann Neurol. 2012 Aug;72(2):175-83. doi: 10.1002/ana.23666. Ann Neurol. 2012. PMID: 22926851 Free PMC article.
Some severely affected individuals developed signs of progressive cerebellar ataxia of variable severity late in the course of their illness. The phenotype was inherited in an autosomal dominant fashion. ...
Some severely affected individuals developed signs of progressive cerebellar ataxia of variable severity late in the course of their …
24 results