Results 161 to 170 of about 2,152,291 (245)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan   +7 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou   +6 more
wiley   +1 more source

The Evolution of Polyclonal Competition in Aging Hematopoiesis. [PDF]

open access: yesCancer Discov
Mon Père NV, Terenzi F, Werner B.
europepmc   +1 more source

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu   +10 more
wiley   +1 more source

Ras-MAPK somatic variants in mesial temporal lobe epilepsy. [PDF]

open access: yesCurr Opin Genet Dev
Cono S, Kahle KT, Walsh CA, Khoshkhoo S.
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang   +13 more
wiley   +1 more source

Clonality, management and geography shape genetic structure in a perennial species with restricted distribution. [PDF]

open access: yesAnn Bot
Martínez-Velasco I   +8 more
europepmc   +1 more source

Temporal Divergence of True and False Alarms in Pediatric Nocturnal Seizure Monitoring

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
The early‐morning surge in false seizure alarms supports exploring time‐ or state‐dependent detection thresholds to reduce false detections. ABSTRACT Seizure detection devices can improve the safety of children with epilepsy, yet high false alarms limit their clinical applicability.
Mohammad Shahbakhti   +6 more
wiley   +1 more source

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