Results 41 to 50 of about 10,678 (188)

A patient with glucose transporter type 1 deficiency syndrome: Paroxysmal choreoathetosis and cerebral positron-emission tomography findings

Neurological Sciences and Neurophysiology, 2022
Glucose transporter type 1 deficiency syndrome (GLUT-1 DS) is an inborn error of metabolism that results in defective glucose transport and consequently a reduced supply of glucose to the brain.
Zuhal Yapici, Pinar Topaloğlu, Cuneyt Turkmen, Mefkure Eraksoy, Sameer Zuberi   +4 more
doaj   +1 more source

Ictal semiology in lateral temporal epilepsy: A systematic review and meta‐analysis

Epileptic Disorders, EarlyView.
Abstract Objective We performed a systematic review of the ictal semiology of the lateral temporal lobe in focal epilepsy aiming to summarize the state‐of‐the‐art anatomo‐clinical correlations in the field and help guide interpretation of ictal semiology within the framework of pre‐surgical evaluation.
Jakob I. Doerrfuss, Georg Zimmermann, Martin Holtkamp   +2 more
wiley   +1 more source

Neurodevelopmental disorder with dystonia due to SOX6 mutations

Molecular Genetics & Genomic Medicine, 2022
Background Mutations in SOX6 have recently been recognized as a new molecular cause of neurodevelopmental disorders characterized by intellectual disability, behavioral changes, and nonspecific facial and digital skeletal abnormalities. To date, T.
Susanne A. Schneider, Christine Mueller, Saskia Biskup, Urban M. Fietzek, Andreas Sebastian Schroeder   +4 more
doaj   +1 more source

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes

Journal of Neurology
Abstract Background Heterozygous loss-of-function variants in CHD8 have been associated with a syndromic neurodevelopmental-disease spectrum, collectively referred to as CHD8-related neurodevelopmental disorders. Several different clinical manifestations, affecting neurodevelopmental and systemic domains, have been ...
Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech   +9 more
openaire   +6 more sources

Epilepsy syndromes classification

Epilepsia 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, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Botulinum Toxin Physiology in Focal Hand and Cranial Dystonia

Toxins, 2012
The safety and efficacy of botulinum toxin for the treatment of focal hand and cranial dystonias are well-established. Studies of these adult-onset focal dystonias reveal both shared features, such as the dystonic phenotype of muscle hyperactivity and ...
Barbara Illowsky Karp
doaj   +1 more source

Medication-induced acute dystonic reaction: the challenge of diagnosing movement disorders in the intensive care unit [PDF]

BMJ Case Reports, 2015
A 62-year-old man presented with left middle cerebral artery stroke. 1 h postadministration of tissue plasminogen activator, he received a total of 4 mg of haloperidol for combativeness. He developed partial complex status epilepticus, requiring benzodiazepines, phenytoin, propofol and intubation.
Geneviève, Digby, Shirin, Jalini, Sean, Taylor   +2 more
openaire   +2 more sources

Neurobiological correlates of obsessive‐compulsive disorder (OCD): A narrative review

Ibrain, EarlyView.
Obsessive‐compulsive disorder (OCD) is a common and disabling, as well as underdiagnosed, neuropsychiatric condition characterized by involuntary and unwanted obsessions and/or compulsions often accompanied by states of severe anxiety, distress and shame, as well as other comorbid disorders. Despite the extensive literature available to date, only some
Giulio Perrotta, Anna Sara Liberati
wiley   +1 more source

Pilomotor Seizures in a Patient With LGI1 Encephalitis

Frontiers in Neurology, 2020
Limbic encephalitis (LE) with antibodies against leucine-rich glioma inactivated protein 1 (LGI1) is an autoimmune disease with variable clinical features, including seizures, cognitive disorders, psychiatric disturbances, and hyponatremia.
Jinxia Yang, Qiying Sun, Guang Yang
doaj   +1 more source

Effects of Deep Brain Stimulation on Adductor Laryngeal Dystonia

The Laryngoscope, EarlyView.
This study evaluated how globus pallidus interna (GPi) versus ventral intermediate nucleus (VIM) deep brain stimulation (DBS) affects objective voice measures in patients with adductor laryngeal dystonia. GPi‐DBS was associated with greater improvements in voicing, voice breaks, and intensity modulation, while VIM‐DBS showed greater improvement in ...
Rita R. Patel, Maggie Stall, Stacey Halum, Benjamin Anthony, Noah Parker, Morgan Reese, David Kareken, Stephanie Dickinson, Thomas C. Witt, David A. Purger, Kunal Gupta, S. Elizabeth Zauber   +11 more
wiley   +1 more source