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   Articles with "myoclonus" as a keyword



The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights

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recommendations! Published in 2025 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.70115

Abstract: North Sea‐Progressive Myoclonus Epilepsy (NS‐PME) is a progressive neurological disorder, initially only associated with the homozygous GOSR2 founder mutation (c.430G>T; p.Gly144Trp). Clinical symptoms include untreatable early‐onset ataxia, cortical myoclonus and epilepsy. Recently, the spectrum of… read more here.

Keywords: gosr2 mutations; gosr2; epilepsy; spectrum gosr2 ... See more keywords

Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene

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recommendations! Published in 2021 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.13260

Abstract: Mutations in the ATP13A2 gene have been causally associated with Kufor-Rakeb syndrome and later with neuronal ceroid lipofuscinosis and a complicated form of hereditary spastic paraplegia (SPG78). The ATP13A2 gene encodes a lysosomal 5Ptype ATPase… read more here.

Keywords: atp13a2 gene; ataxia; action myoclonus; myoclonus ... See more keywords

Acute Cerebellar Ataxia and Myoclonus in SARS‐CoV‐2–Related Encephalopathy Responsive to Immunotherapy: A Case Series

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recommendations! Published in 2022 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.13598

Abstract: Within movement disorders occurring during or after coronavirus 2019 (COVID-19), myoclonus was observed both isolated and in the context of encephalopathy, as well as with ataxia, but without opsoclonus. 1 However, pathomechanisms remain poorly understood.… read more here.

Keywords: cov related; ataxia myoclonus; case; myoclonus ... See more keywords

Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant

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recommendations! Published in 2023 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.13701

Abstract: TBC1D24 (#MIM 613577) variants-associated diseases include a wide spectrum of epilepsy, drug-resistant multifocal myoclonus, and epilepsia partialis continua. 1,2 Reports of abdominal myoclonus 3 and no scalp electroencephalogram (EEG) correlation during myoclonus 1 have suggested… read more here.

Keywords: tbc1d24; therapy multifocal; myoclonus; baclofen therapy ... See more keywords
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A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High‐Frequency Activities in Giant Somatosensory Evoked Potentials

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recommendations! Published in 2021 at "Movement Disorders"

DOI: 10.1002/mds.28666

Abstract: Benign adult familial myoclonus epilepsy (BAFME) is one of the diseases that cause cortical myoclonus (CM) with giant somatosensory evoked potentials (SEPs). There are no useful diagnostic biomarkers differentiating BAFME from other CM diseases. read more here.

Keywords: benign adult; myoclonus epilepsy; myoclonus; familial myoclonus ... See more keywords

Substantiating the Short Burst Duration in Cortical Myoclonus

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recommendations! Published in 2024 at "Movement Disorders"

DOI: 10.1002/mds.29990

Abstract: Myoclonus is characterized by involuntary, shock‐like movements, of which cortical (CM) and non‐cortical myoclonus (NCM) are most common. Electrophysiology can help differentiate between these subtypes; however, the diagnostic value of several features is largely unknown. read more here.

Keywords: cortical myoclonus; duration cortical; short burst; substantiating short ... See more keywords

A Portuguese rapid-onset dystonia-parkinsonism case with atypical features

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recommendations! Published in 2017 at "Neurological Sciences"

DOI: 10.1007/s10072-017-2996-4

Abstract: Dear Editor, Rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3, formerly known as DYT12) is a combined dystonia syndrome rarely encountered in clinical practice [1]. Recent reports have expanded the clinical presentation beyond the classical phenotype and there is increasing… read more here.

Keywords: onset dystonia; dystonia parkinsonism; rapid onset; dystonia ... See more keywords
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Isolated generalized myoclonus immune-mediated by SARS-CoV-2: an illustrative videotaped case

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recommendations! Published in 2021 at "Neurological Sciences"

DOI: 10.1007/s10072-021-05164-8

Abstract: Myoclonus in the context of COVID-19 is an increasingly recognized condition. The occurrence in an ICU context in hypoxic patients, with metabolic disorders, taking several types of medication, makes difficult to establish a precise cause.… read more here.

Keywords: serology; mediated sars; myoclonus; immune mediated ... See more keywords
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A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation

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recommendations! Published in 2020 at "Neurology and Therapy"

DOI: 10.1007/s40120-020-00186-4

Abstract: Introduction Myoclonus-dystonia is an inherited disorder characterized by a combination of myoclonic jerks and dystonia. Mutations in the epsilon-sarcoglycan gene ( SGCE ) represent the main known genetic cause. In the last few years, deep… read more here.

Keywords: case; isolated myoclonus; myoclonus; myoclonus phenotype ... See more keywords

Syndrome opsoclonus-myoclonus paranéoplasique et mélanome muqueux

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recommendations! Published in 2017 at "Annales De Dermatologie Et De Venereologie"

DOI: 10.1016/j.annder.2017.09.511

Abstract: Introduction Le syndrome opsclonus-myoclonus paraneoplasique (SOMP) fait partie des syndromes neurologiques paraneoplasiques. Il a surtout ete decrit dans le cadre de neuroblastome de l’enfant ou de cancer pulmonaire a petites cellules de l’adulte. Nous rapportons… read more here.

Keywords: somp; muqueux; myoclonus; non metastatique ... See more keywords

Low-dose perampanel improves refractory cortical myoclonus by the dispersed and suppressed paroxysmal depolarization shifts in the sensorimotor cortex

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recommendations! Published in 2019 at "Clinical Neurophysiology"

DOI: 10.1016/j.clinph.2019.07.006

Abstract: OBJECTIVE To elucidate the effects of perampanel (PER) on refractory cortical myoclonus for dose, etiology and somatosensory-evoked potential (SEP) findings. METHODS We examined 18 epilepsy patients with seizure and cortical myoclonus. Based on data accumulated… read more here.

Keywords: perampanel improves; low dose; dose perampanel; refractory cortical ... See more keywords