Results 31 to 40 of about 71,528 (269)

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source

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, Young Hyo Kim, Yoonseok Hwang, Ben Kang, Dong Hyun Kim, Young Se Kwon   +5 more
doaj   +1 more source

Analysis of persistent geotropic and apogeotropic positional nystagmus of the lateral canal benign paroxysmal positional vertigo

Journal of Otology, 2022
Objective: This study aims to analyze the clinical characteristics of persistent geotropic and apogeotropic positional nystagmus of LC-BPPV in view of light and heavy cupula discussion.
Sertac Yetiser, Dilay Ince
doaj   +1 more source

Vestibular Perception following Acute Unilateral Vestibular Lesions. [PDF]

, 2013
Little is known about the vestibulo-perceptual (VP) system, particularly after a unilateral vestibular lesion. We investigated vestibulo-ocular (VO) and VP function in 25 patients with vestibular neuritis (VN) acutely (2 days after onset) and after ...
A Palermo, A Schmid-Priscoveanu, A Zwergal, AC Coats, Adolfo M. Bronstein, AG Shaikh, AM Bronstein, Barry Seemungal, BM Seemungal, BM Seemungal, BM Seemungal, BP Graham, C Haburcakova, C Haburcakova, C Helmchen, C Lopez, CM Klingner, D Merfeld, Diego Kaski, DM Merfeld, DM Merfeld, E Miller, EA Grunfeld, F Karmali, FE Guedry, G Bertolini, G Bertolini, G Clement, H Meng, H Shimazu, I Viaud-Delmon, JM Goldberg, John F. Golding, K Brantberg, Krish Sathian, L Grabherr, M Dieterich, M Ernst, M Magnusson, Michael Gresty, N Sinha, Nicholas Cutfield, NJ Cutfield, P Kahane, PF Smith, PR MacNeilage, R Mallery, RW Baloh, Sian Cousins, Stefan Glasauer, T Okada, VE Pettorossi, W Waespe, WO Guldin, Z Zhang   +54 more
core   +4 more sources

Clinical characteristics and lateralization of the horizontal semicircular canal light cupula

Frontiers in Neurology
IntroductionPositional vertigo and nystagmus are the main symptoms and signs of dizziness, respectively. Despite the clinical utility of the supine roll test (SRT) and null point (NP) in diagnosing light cupula, a type of positional vertigo, there exists
Wenjing Qin, Zheng Liu, Yanhan Zhu, Xueyan Zhang, Jiao Xu, Tao Zhou, Lingli Wei, Yi Fang, Liying Chang   +8 more
doaj   +1 more source

Nose blowing-induced biphasic nystagmus of unknown origin

Acta Oto-Laryngologica Case Reports, 2021
Nose blowing can increase middle ear and cerebrospinal fluid pressure. We report a case of biphasic nystagmus induced by nose blowing. The patient showed biphasic, right-beating, and left-beating nystagmus, and complained of spinning vertigo after ...
Munetaka Ushio, Manabu Kataoka, Kenji Iyama, Ayami Shimizu, Mitsuya Suzuki   +4 more
doaj   +1 more source

Two devices for analysis of nystagmus [PDF]

, 1969
Electromechanical Slope Computer /ESC/ and Electronic Summation Device /ESD/ facilitates rapid analysis of nystagmus records. The ESC reads out the slope and time of each nystagmus wave form. The ESD provides much faster analysis than the ESC.
Guedry, F. E., Jr., Turnipseed, G., Turnipseed, G. T.   +2 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Nystagmus in Down Syndrome – a Retrospective Notes Review

British and Irish Orthoptic Journal, 2022
Introduction: Nystagmus has been reported in up to 30% of people with Down Syndrome (DS), and yet is still not well understood. Our study aims to characterise the clinical features of patients with DS and nystagmus.
Dilys Oladiwura, Yusrah Shweikh, Clare Roberts, Maria Theodorou   +3 more
doaj   +1 more source

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, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source