Results 41 to 50 of about 50,007 (274)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Prevalence of positional nystagmus during static positional testing in normal healthy population using video-nystagmography [PDF]
, 2010 Positional nystagmus (PN) is a type of nystagmus that occurs as a result of the head or the head and body being moved from one position to another and then statically maintained in the critical position.
Svandelkova, Irena
core
Epileptic Nystagmus and Vertigo Associated with Bilateral Temporal and Frontal Lobe Epilepsy [PDF]
Clinical and Experimental Otorhinolaryngology, 2013 Epileptic nystagmus is defined as a quick, repetitive jerky movement of the eyeball associated with seizure activity. In cases of epileptic nystagmus associated with ictal discharge from multiple brain areas, localization of the exact epileptogenic zone ...
Kyu-Sung Kim +5 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Clincial Significance of Rebound Nystagmus [PDF]
, 2009 Objective/Hypothesis: Magnetic resonance imaging (MRI) examination is performed in cases of rebound nystagmus to elucidate the responsible site for rebound nystagmus, Methods: Patients with vertigo or tinnitus received a battery of audiological and neuro-
林昭佑;楊怡和 +1 more
core
Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park +5 more
wiley +1 more source
, 2012 Nystagmus is a rhythmic eye oscillation that usually has a jerk or pendular waveform. Congenital nystagmus often comprises more complex waveforms.
William A. Fletcher, MD
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source
International Journal of Emergency MedicineBackground Reduction of spontaneous nystagmus by fixation, a characteristic feature of peripheral nystagmus, is important for differentiating between peripheral and central vestibular disorders.
Reiko Tsunoda +3 more
doaj +1 more source