Results 181 to 190 of about 147,828 (291)

Underutilization of syndrome‐specific ICD‐10 codes for genetic epilepsies: Implications for precision medicine

open access: yesEpilepsia, EarlyView.
Abstract Syndrome‐specific International Classification of Diseases, 10th Revision (ICD‐10) codes have the potential to improve identification of patients for precision therapies, clinical trials, and research, yet their real‐world uptake is not well characterized.
Émile Moura Coelho da Silva   +15 more
wiley   +1 more source

Recommendations for structural magnetic resonance imaging in infants with first afebrile seizure or new onset epilepsy: Evidence‐based recommendations from the ILAE Neuroimaging Task Force

open access: yesEpilepsia, EarlyView.
Abstract Infants aged 1–24 months with new onset epilepsy frequently present with structural brain abnormalities, yet no updated evidence‐based magnetic resonance imaging (MRI) guidelines exist for this population. The International League Against Epilepsy (ILAE) Neuroimaging Task Force developed evidence‐based recommendations for structural brain MRI ...
Gavin P. Winston   +15 more
wiley   +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

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

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy