Prenatal Stress Induces Changes in Behavior, HPA Axis, Inflammation, and Oxidative Stress in Adult Rats Offspring. [PDF]
Aguiar-Geraldo JM +7 more
europepmc +1 more source
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff +6 more
wiley +1 more source
Maternal internalizing symptoms as a mechanism linking pre- and postnatal COVID-19 pandemic exposure with preschool-aged children's neurodevelopment. [PDF]
Finegold KE +10 more
europepmc +1 more source
KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan +20 more
wiley +1 more source
Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis. [PDF]
Chen S, Liang B, Lin N, Pan M, Li L.
europepmc +1 more source
Abstract Infants aged 1–24 months with new onset epilepsy frequently present with structural brain abnormalities, yet no updated evidence‐based magnetic resonance imaging (MRI) guidelines exist for this population. The International League Against Epilepsy (ILAE) Neuroimaging Task Force developed evidence‐based recommendations for structural brain MRI ...
Gavin P. Winston +15 more
wiley +1 more source
Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities. [PDF]
Fu G, Hu S.
europepmc +1 more source
[Prenatal medicine and prenatal diagnosis].
Prenatal diagnosis universalization allows knowing the prognostic possibilities in a situation of limited therapeutical resources. Therefore, besides permitting the peace of a normal fetal development, in other circumstances it can provoke parent's requirement to interrupt pregnancy in cases of malformation or chromosomal alteration, situations that ...
openaire +1 more source
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source
A Longitudinal Study of Children's Hippocampal Development: Investigating Maternal Physical Activity, Depression, and Education. [PDF]
Aghamohammadi-Sereshki A +9 more
europepmc +1 more source

