Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Computing the Two-Sided Kolmogorov-Smirnov Distribution
Journal of Statistical Software, 2011 We propose an algorithm to compute the cumulative distribution function of the two-sided Kolmogorov-Smirnov test statistic Dn and its complementary distribution in a fast and reliable way.
Richard Simard, Pierre L'Ecuyer
doaj
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Comment on "How Good is Your Model Fit? Weighted Goodness-of-Fit Metrics for Irregular Time Series". [PDF]
Ground Water, 2022 Zaadnoordijk WJ.
europepmc +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Non-Parametric Goodness-of-Fit Tests Using Tsallis Entropy Measures. [PDF]
Entropy (Basel)Cadirci MS.
europepmc +1 more source
A goodness-of-fit test based on neural network sieve estimators. [PDF]
Stat Probab Lett, 2021 Shen X, Jiang C, Sakhanenko L, Lu Q.
europepmc +1 more source
Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li +10 more
wiley +1 more source
Graphical interface for goodness-of-fit evaluation and clustering of probability distributions in environmental datasets. [PDF]
MethodsXReba F, Saifudin T, Hendradi R.
europepmc +1 more source
Reply to Comment on "How Good is Your Model Fit? Weighted Goodness-of-Fit Metrics for Irregular Time Series". [PDF]
Ground Water, 2022 Collenteur RA.
europepmc +1 more source