Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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
New Jersey Register Volume 21 Number 11 (Pages 1475-1598)
New Jersey. Office of Administrative Law
core
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
New Jersey Register Volume 21 Number 18 (Pages 2843-3042)
New Jersey. Office of Administrative Law
core
Frontmatter Volume 21 No. 2 November 2001
Berkala Arkeologi
doaj +2 more sources
Correction: The Covid-19 pandemic in Sweden: Prolonged and unevenly distributed effects on the volume of pediatric anesthesia and surgery demonstrated by data from the Swedish Perioperative Register. [PDF]
PLOS One Staff.
europepmc +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
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
New Jersey Register Volume 21 Number 17 (Pages 2691-2842)
New Jersey. Office of Administrative Law
core
Correction: Association between radiation volume and breast density for skin toxicity and breast edema after radiotherapy in breast conserving therapy of breast cancer. [PDF]
Sonnhoff M +7 more
europepmc +1 more source

