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
Shaping Understanding: The Role of Professional Language in Massage Therapy. [PDF]
Int J Ther Massage BodyworkBaskwill A.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu +10 more
wiley +1 more source
MultiPert: An adversarial alignment and dual attention framework for single-cell multi-omics perturbation prediction. [PDF]
PLoS Comput BiolZhao M +5 more
europepmc +1 more source
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
Causal cross-trait mapping at single-cell resolution identifies shared immunogenetic drivers of migraine and Meniere's disease. [PDF]
J Headache PainHu X +7 more
europepmc +1 more source
Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth +8 more
wiley +1 more source
Defining culturally responsive sleep health care through Australian First Nations leadership. [PDF]
Lancet Reg Health West PacNasir B +5 more
europepmc +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source