Results 191 to 200 of about 23,848 (306)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

From Tics to Stabs: Renaming Cluster Tics in Cluster Headache-A Cross-Sectional Study. [PDF]

Eur J Neurol
Carney M, Søborg MK, Maarbjerg S, Lund N, Worm J, Bendtsen L, Jensen RH, Petersen AS.   +7 more
europepmc   +1 more source

ON PAROXYSMAL HqMOGLOBINURIA [PDF]

The Lancet, 1884
openaire   +2 more sources

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Sturge-Weber Syndrome: A Rare Clinical Presentation with Bilateral Port-Wine Stain and Leptomeningeal Angiomatosis.

Indian J Dermatol
Gomes LLA, de Castro VB, Thien CI, de Oliveira Vieira E, Azulay-Abulafia L.   +4 more
europepmc   +1 more source

Multiple mush generations provide insight into the longevity of open-conduit basaltic volcanoes. [PDF]

Sci Rep
Schiavon B, Petrone CM, Forni F, Pontesilli A, Hu H, Scarlato P, Andronico D, Bello ED, Nazzari M, Mollo S.   +9 more
europepmc   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Adult-Onset Neurological Deterioration in Dravet Syndrome Associated With a Novel SCN1A Missense Variant (p.Gly1371Asp): A Case Report. [PDF]

Cureus
Yokoyama K, Miyazaki S, Murayama K, Matsumoto A, Muramatsu K.   +4 more
europepmc   +1 more source

Evolutionary origins of autism and psychosis? [PDF]

, 2006
Badcock, Christopher
core  

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source