Results 31 to 40 of about 17,947 (227)
An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition
Epilepsia, EarlyView.Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha +13 more
wiley +1 more source
Treatment of Nystagmus and Saccadic Oscillations
, 2012 Nystagmus is often encountered in neuro-ophthalmic practice, having a prevalence of about 24 per 10,000 in the general population. Unlike physiologic nystagmus, where the slow phases of nystagmus serve to minimize retinal image slip, the slow phases of ...
Matthew Thurtell, Mbbs, fRaCP
core
Epilepsia, EarlyView.Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal +5 more
wiley +1 more source
Transient Vestibulopathy in Wallenberg’s Syndrome: Pathologic Analysis [PDF]
, 2017 ObjectiveTo report an unusual lateral medullary stroke (LMS) associated with transient unidirectional horizontal, nystagmus, and decreased horizontal vestibulo–ocular reflex (h-VOR) gain that mimicked a peripheral vestibulopathy.
Ali S. Saber Tehrani +15 more
core +1 more source
Epilepsia Open, EarlyView.Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris +4 more
wiley +1 more source
JPGN Reports, EarlyView.Abstract Infantile‐onset inflammatory bowel disease (IOIBD) is a rare and severe subset of very‐early‐onset IBD, often associated with immune dysregulation and poor response to conventional therapies. Data regarding the use of Janus kinase inhibitors (JAKI) in this population is limited.
Smridhi Mahajan +2 more
wiley +1 more source
The Epidemiology and Clinical Presentation of the Acute Imbalance Syndrome (AIS)-A Systematic Review and Meta-Analysis. [PDF]
Eur J NeurolABSTRACT Objectives The acute imbalance syndrome (AIS) refers to acute‐onset and persistent vertigo, dizziness and/or imbalance without nystagmus, reflecting a subset of the acute vestibular syndrome (AVS) with or without nystagmus. While AVS with nystagmus is well characterized and the approach to these patients is validated, much less is known about ...
Schmidt K +3 more
europepmc +2 more sources
JEADV Clinical Practice, EarlyView.ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni +3 more
wiley +1 more source
Walsh & Hoyt: Dissociated Nystagmus
, 2005 A special type of pathologic gaze-evoked nystagmus is dissociated or ‘‘ataxic\u27\u27 ...
John R. Leigh, MD; Janet C. Rucker, MD
core
Movement Disorders in Developmental and Epileptic Encephalopathies
Movement Disorders Clinical Practice, EarlyView.Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source