Results 171 to 180 of about 229,156 (260)

Prognostic factors for 1-week survival in dogs diagnosed with meningoencephalitis of unknown aetiology [PDF]

open access: yes, 2016
Barnoon   +17 more
core   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

open access: yesEpilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli   +43 more
wiley   +1 more source

Artificial intelligence for adaptive neuromodulation in drug‐resistant epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Drug‐resistant epilepsy (DRE) affects nearly one third of people with epilepsy and is associated with substantial cognitive, psychiatric, and mortality burdens. For patients who are not candidates for resection or laser interstitial thermal therapy, neuromodulation therapies such as vagus nerve stimulation, deep brain stimulation, and ...
Amir Hossein Daraie   +10 more
wiley   +1 more source

Blood-Nerve Barrier Breakdown Induced by Immunoglobulin G in Typical and Multifocal Chronic Inflammatory Demyelinating Polyneuropathy and Multifocal Motor Neuropathy. [PDF]

open access: yesInt J Mol Sci
Shimizu F   +10 more
europepmc   +1 more source

An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition

open access: yesEpilepsia, EarlyView.
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha   +13 more
wiley   +1 more source

Multifocal Non-contiguous Spinal Tuberculosis: A Report of 3 Surgically-Treated Patients. [PDF]

open access: yesJ Orthop Case Rep
Viswanathan VK   +5 more
europepmc   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze   +19 more
wiley   +1 more source

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