Results 121 to 130 of about 51,683 (162)
, 1985 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Deud, Luiz Fernando Raposo
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British Journal of Pharmacology, EarlyView.Abstract Background and Purpose Radiprodil is a GluN2B subunit selective NMDA receptor negative allosteric modulator which is currently under clinical investigation as a possible anti‐epileptic drug for paediatric use. Our goal was to investigate the inhibition of dopaminergic neuron NMDA responses by radiprodil.
Bangyuan Liu, Alasdair J. Gibb
wiley +1 more source
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
Clinical Genetics, EarlyView.PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady +3 more
wiley +1 more source
Auditory processing in the syndrome of infantile spasms. [PDF]
, 2007 The early onset epileptic encephalopathy of infantile spasms is frequently associated with acute cognitive regression, long-term learning disability and autistic spectrum disorder. Although there may be a structural basis to the epilepsy, it appears that
Werner, K.G.E.
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Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory
Clinical Genetics, EarlyView.Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco +14 more
wiley +1 more source
Neuroimaging and neurophysiology in infantile‐onset epilepsy after neonatal stroke
Developmental 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
Developmental 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
, 2006 Infantile spasms (IS) are characterised by neurodevelopmental regression, a unique type of seizures and a hypsarrhythmic EEG pattern. Studies recommend the medical treatment of IS as a positive short-term outcome with respect to the spasms and in the ...
Kjærsgård, Lars, Rasmussen, Niels
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Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci +10 more
wiley +1 more source
Developmental 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