Results 181 to 190 of about 1,234,147 (346)

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang   +11 more
wiley   +1 more source

Time‐Frequency Fingerprint Analysis in SEEG Source‐Space to Identify the Epileptogenic Zone

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case study highlights the application of seizure fingerprint analysis in the source‐space of stereo‐EEG (SEEG) data to accurately localize the epileptogenic zone (EZ) in patients with complex cortical malformations. A 25‐year‐old female with extensive bilateral perisylvian polymicrogyria (PMG) presented with intractable focal seizures ...
Yash Shashank Vakilna   +10 more
wiley   +1 more source

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin   +11 more
wiley   +1 more source

High‐Efficacy Treatment in Neuromyelitis Optica Specturm Disorder Patients With Seropositive AQP4 Antibodies—A Real‐World Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To compare the effectiveness of high‐efficacy treatments (HET) and low‐efficacy treatments (LET) in NMOSD patients with anti‐aquaporin‐4 antibodies (AQP4‐ab). Methods In this multi‐center study, we analyzed 183 AQP4‐ab seropositive NMOSD patients who received immunosuppressive treatments (IST).
Xiang Li   +10 more
wiley   +1 more source

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont   +4 more
wiley   +1 more source

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