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
Brain activation patterns of figurative language comprehension in individuals with autism spectrum disorder: an activation likelihood estimation meta-analysis. [PDF]
Cheng L +5 more
europepmc +1 more source
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
Posterior Cortical Atrophy: Altered Language Processing System Connectivity and Its Implications on Language Comprehension and Production. [PDF]
Singh-Reilly N +7 more
europepmc +1 more source
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
Beyond concreteness: why word specificity is the missing piece in theories on embodied language comprehension. [PDF]
Bolognesi M.
europepmc +1 more source
Adapting Curricula for Children With Language Comprehension Deficits. [PDF]
Bridges MS +5 more
europepmc +1 more source
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
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
Heterogeneity in English as a Foreign Language: Skills Among Norwegian 6th Graders with Dyslexia-The Impact of Language Comprehension and Processing Profiles. [PDF]
Helland TM, Kaasa R, Helland WA.
europepmc +1 more source
Background and research question Reading comprehension in one’s first language is a broadly researched phenomenon. However, technological, social and economic changes have led to an increase of people learning to read in a foreign language (Saiegh-Hadad & Geva, 2010; Bernhardt, 2011).
openaire +1 more source

