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10,354 results
  • Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation. [Journal Article]
    Neurol Neurochir Pol 2020Kaczyńska J, Jamrozik Z, … Janik P
  • CONCLUSIONS: Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms.
  • Clinical significance of Kelch-like protein 11 antibodies. [Journal Article]
    Neurol Neuroimmunol Neuroinflamm 2020; 7(3)Maudes E, Landa J, … Sabater L
  • CONCLUSIONS: KLHL11-abs associate with a spectrum of syndromes and tumors wider than those previously reported; 44% of patients have concurrent neuronal antibodies, some of them (anti-NMDAR) pathogenically relevant. Brain immunostaining is not useful for routine screening of KLHL11-abs.
  • A Clinical Applicable Smartwatch Application for Measuring Hyperkinetic Movement Disorder Severity. [Journal Article]
    Conf Proc IEEE Eng Med Biol Soc 2019; 2019:5867-5870Vochteloo M, Tijssen MAJ, Beudel M
  • Measuring the severity of hyperkinetic movement disorders like tremor and myoclonus is challenging. Although many accelerometers are available to quantify movements, the vast majority lacks real-time analysis and an interface that makes it possible to real-time adjust therapy like deep brain stimulation (DBS). Here, we developed a smartwatch/smartphone application that is capable of real-time ana…
  • Drug Treatment of Progressive Myoclonic Epilepsy. [Review]
    Paediatr Drugs 2020Holmes GL
  • The progressive myoclonic epilepsies (PMEs) represent a rare but devastating group of syndromes characterized by epileptic myoclonus, typically action-induced seizures, neurological regression, medically refractory epilepsy, and a variety of other signs and symptoms depending on the specific syndrome. Most of the PMEs begin in children who are developing as expected, with the onset of the disorde…
  • Abdominal Epilepsy Masked with Hiccups in a Patient with Intracranial Malignant Glioma. [Case Reports]
    Cureus 2019; 11(12):e6338Assad S, Dobariya V, … Malik SA
  • Abdominal hiccups are often masked by abdominal epilepsy (AE) in clinical settings. Spontaneous arrhythmic muscular movements sometimes raise the suspicion for abdominal myoclonus as well. AE is an atypical and rare cause of seizure disorder. It is a manifestation of different transient abdominal complaints correlating with abnormal electroencephalogram (EEG) changes and adequate response to anti…
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