Results 141 to 150 of about 54,523 (280)

Correlating familial Alzheimer’s disease gene mutations with clinical phenotype [PDF]

, 2010
Alzheimer’s disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it.
Rossor, M.N., Ryan, N.S.
core   +1 more source

Ethosuximide completely suppressed epileptic negative myoclonus in childhood localization-related epilepsy [PDF]

, 2010
We report two cases of localization-related epilepsy manifesting frequent brief atonia. The patients were assumed to have epileptic negative myoclonus (ENM), and were successfully treated with ethosuximide (ESM).
Iwasaki Nobuaki, Ohto Tatsuyuki, Saito Takashi, Sumazaki Ryo, Tanaka Ryuta, 大戸 達之, 田中 竜太, 須磨崎 亮   +7 more
core   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]

, 2019
BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of ...
Cho SY, Corsello G, Falsaperla R., Jin DK, Marino S, Marino SD, Pappalardo XG, Pavone P, Ruggieri M   +8 more
core   +1 more source

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]

, 2015
Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Anderson, G, Cale, CM, Chalasani, A, Chan, E, Duchen, MR, Gilmour, KC, Hambleton, S, Jacques, S, Osellame, LD, Plagnol, V, Qasim, W, Rahman, S, Shahni, R, Taanman, JW, Wadatilake, Y   +14 more
core   +1 more source

Deterioration of preexisting myoclonus following nifedipine use in parkinsonian syndrome: A case report

eNeurologicalSci
L-type calcium channel antagonists are uncommon causes of myoclonus, and the underlying mechanism remains unclear. Here, we report a case of parkinsonian syndrome with deterioration of preexisting myoclonus after nifedipine use.
Gohei Yamada, Takanari Toyoda, Eiichi Katada, Noriyuki Matsukawa   +3 more
doaj   +1 more source

Myoclonus in Ataxia-Telangiectasia

Tremor and Other Hyperkinetic Movements, 2015
Background: Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT.
Pichet Termsarasab, Amy C. Yang, Steven J. Frucht   +2 more
doaj   +1 more source

Movement Disorders Presenting in Childhood. [PDF]

, 2016
PURPOSE OF REVIEW: This article provides an overview of movement disorders that present in childhood. Key clinical features are discussed, and a brief guide to management strategies is provided.
Dale, RC, Kurian, MA
core   +1 more source

Comparison of the Effects of Low-Dose Midazolam, Magnesium Sulfate, Remifentanil and Low-Dose Etomidate on Prevention of Etomidate-Induced Myoclonus in Orthopedic Surgeries

Anesthesiology and Pain Medicine, 2016
Background Etomidate is a potent hypnotic agent with several desirable advantages such as providing a stable cardiovascular profile with minimal respiratory adverse effects and better hemodynamic stability compared with other induction agents.
Abbas Sedighinejad, Bahram Naderi Nabi, M. Haghighi, Gelareh Biazar, V. Imantalab, S. Rimaz, Zahra Zaridoost   +6 more
semanticscholar   +1 more source

Convergence Deficits in Myoclonus‐Dystonia Point to Cerebellar Impairment

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Myoclonus‐dystonia (M‐D) is a monogenic movement disorder, with proposed cerebellar dysfunction. Vergence eye movement deficits, characteristics of degenerative cerebellar disease, have not been studied in M‐D. Cerebellar transcranial alternating current stimulation (tACS) is considered a potential therapeutic approach.
Skadi Gerkensmeier, Christina Bolte, Jan‐Ole Radecke, Feline Hamami, Andreas Sprenger, Christoph Helmchen, Robert Chen, Marcus Callister, Talyta Cortez Grippe, Christine Klein, Norbert Brüggemann, Tobias Bäumer, Alexander Münchau, Anne Weissbach   +13 more
wiley   +1 more source