Results 141 to 150 of about 59,645 (241)

Neuroimaging and neurophysiology in infantile‐onset epilepsy after neonatal stroke

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This population‐based retrospective cohort study of 55 newborn infants demonstrated that neonatal MRI and neonatal neurophysiology (amplitude‐integrated EEG, conventional EEG, and somatosensory evoked potentials) combined with follow‐up EEGs during the first year of life provide practical tools for identifying infants at the highest risk of developing ...
Sinikka La Grassa   +6 more
wiley   +1 more source

Attrition in a telehealth caregiver‐mediated behavioral intervention for children with tuberous sclerosis complex: A mixed‐methods study

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Exploratory quantitative analyses suggested that higher seizure severity and COVID‐era enrollment were associated with lower intervention completion, while qualitative findings identified cumulative caregiver burden, medical instability, competing demands, and perceived intervention fit as contributors to attrition.
Carly Hyde Tillis   +10 more
wiley   +1 more source

Whole genomic approach in mutation discovery of infantile spasms patients. [PDF]

open access: yesFront Neurol, 2022
Lee S   +5 more
europepmc   +1 more source

Perinatal complications, mode of delivery, and neurological morbidity in children with COL4A1/A2 variants

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey   +3 more
wiley   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

open access: yesThe FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen   +10 more
wiley   +1 more source

BRAIN GROWTH, MENTAL AND COGNITIVE DEVELOPMENTCAN BE INFLUENCED BY SEVERE EPILEPTIC ACTIVITYDURING EARLY INFANCY

open access: yesZdravniški Vestnik, 2008
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj  

Infantile spasms

open access: yesCleveland Clinic Journal of Medicine, 1984
openaire   +2 more sources

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci   +10 more
wiley   +1 more source

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