Results 51 to 60 of about 4,913 (183)
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Cdc4 can target Cln2 for degradation upon co-localization.
, 2012 (A) Cdk-phosphorylated Cln2 interacts with Cdc4 and Grr1. Myc and GST Western blots showing pull-down of GST, GST-Cdc4ΔF and GST-Grr1ΔF proteins from grr1Δ cells expressing Cln2-13Myc (wt) or Cln2-4T3S-13Myc (4T3S). 2% input (i) and glutathione-sepharose
Benjamin D. Landry (149420) +3 more
core +1 more source
Italian Journal of Pediatrics, 2020 Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 ...
Elisabetta Amadori +17 more
doaj +1 more source
Epilepsy syndromes classification
Epilepsia Open, EarlyView.Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source
A stochastic model correctly predicts changes in budding yeast cell cycle dynamics upon periodic expression of CLN2. [PDF]
PLoS ONE, 2014 In this study, we focus on a recent stochastic budding yeast cell cycle model. First, we estimate the model parameters using extensive data sets: phenotypes of 110 genetic strains, single cell statistics of wild type and cln3 strains.
Cihan Oguz +5 more
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Proteins at the CLN2 promoter.
, 2013 (A) Map of the CLN2 promoter, showing the location of the up, sbf, and dwn probes in the BBP1-CLN2 intergenic region. The sbf probe overlaps the consensus SBF binding sites. The dyn probe is in the middle of the DYN1 open reading frame, several kilobases
Herman Wijnen (61991) +4 more
core +1 more source
, 2019 The yeast β-karyopherin Msn5 controls the SBF cell-cycle transcription factor, responsible for the periodic expression of CLN2 cyclin gene at G1/S, and the nuclear export of Cln2 protein.
Inma Quilis (4351246) +4 more
core +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia 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
“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”
Molecular Genetics and Metabolism Reports, 2021 Introduction: Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency.
O.M. Espitia Segura +4 more
doaj +1 more source