Results 251 to 260 of about 963,191 (312)
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
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
[Intensive treatment of tetanus].
P C, Borchgrevink +4 more
openaire +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
[Intensive treatment of arrhythmias].
A, Apostolski +5 more
openaire +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
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Communication Disorders Quarterly, 2014
This preliminary study examined the effects of interactive storybook reading on narrative abilities in 12 preschool children with specific language impairment (SLI) in two treatment intensity conditions within the public school milieu. One condition consisted of 42 sessions across 14 weeks. The other consisted of 24 sessions across 6 weeks.
Monica L. Bellon-Harn +2 more
openaire +1 more source
This preliminary study examined the effects of interactive storybook reading on narrative abilities in 12 preschool children with specific language impairment (SLI) in two treatment intensity conditions within the public school milieu. One condition consisted of 42 sessions across 14 weeks. The other consisted of 24 sessions across 6 weeks.
Monica L. Bellon-Harn +2 more
openaire +1 more source

