Results 71 to 80 of about 39,513 (283)

Improvement of post-hypoxic action myoclonus with levetiracetam add-on therapy: A case report [PDF]

open access: yes, 2014
Introduction. Chronic post-anoxic myoclonus, also known as Lance-Adams syndrome, may develop following hypoxic brain injury, and is resistant to pharmacological therapy. Case report.
Božić Ksenija   +4 more
core   +1 more source

Epilepsy syndromes classification

open access: yesEpilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell   +4 more
wiley   +1 more source

Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation

open access: yesTremor and Other Hyperkinetic Movements, 2016
Background: Myoclonus–dystonia is a condition that manifests predominantly as myoclonic jerks with focal dystonia. It is genetically heterogeneous with most mutations in the epsilon sarcoglycan gene (SGCE). In medically refractory cases, deep brain
Ritesh Ramdhani   +3 more
doaj   +1 more source

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1 [PDF]

open access: yes, 2017
The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described.
Arumilli, Meharji   +21 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

Microarray gene expression profiling of neural tissues in bovine spastic paresis [PDF]

open access: yes, 2013
: Background: Bovine Spastic Paresis (BSP) is a neuromuscular disorder which affects both male and female cattle. BSP is characterized by spastic contraction and overextension of the gastrocnemious muscle of one or both limbs and is associated with a ...
Bicorgna, S.   +9 more
core   +3 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang   +3 more
wiley   +1 more source

Large fasciculation can clinically manifest as spinal myoclonus; electromyographic and dynamic echomyographic studies of four cases with motor neuron disease

open access: yesClinical Neurophysiology Practice, 2018
Objective: Patients with motor neuron disease rarely present with fasciculation which is large enough to be clinically recognized as myoclonus. This study is aimed at elucidating the features of large fasciculation manifesting as myoclonus by using ...
Manabu Inoue   +5 more
doaj   +1 more source

From glycogen metabolism to Lafora disease [PDF]

open access: yes, 2016
Glycogen synthesis is normally absent in neurons. However, inclusion bodies resembling abnormal glycogen accumulate in several neurological diseases, particularly in progressive myoclonus epilepsy or Lafora disease.
Guinovart, Joan
core  

Genetic issues in the diagnosis of dystonias [PDF]

open access: yes, 2013
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
core   +1 more source

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