Hypomelanosis of Ito–Brain Melanin Deposition on Magnetic Resonance Imaging: A Preliminary Hypothesis Based on Two Pediatric Cases [PDF]
Annals of Child NeurologyTo investigate brain melanin deposition on magnetic resonance imaging (MRI) in hypomelanosis of Ito (HI) by presenting two clinical cases and reviewing relevant literature.
Roshwanth Arbujin +5 more
doaj +1 more source
Technological and computational approaches to detect somatic mosaicism in epilepsy
Neurobiology of Disease, 2023 Lesional epilepsy is a common and severe disease commonly associated with malformations of cortical development, including focal cortical dysplasia and hemimegalencephaly.
Christian M. Boßelmann +2 more
doaj +1 more source
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]
, 2015 Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa +2 more
core +2 more sources
2014 Epilepsy Benchmarks Area III: Improve Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects [PDF]
, 2016 The Epilepsy Benchmark goals in Area III focus on making progress in understanding and controlling seizures and related conditions as well as on developing biomarkers and new therapies that will reduce seizures and improve outcomes for individuals with ...
Davis, K +12 more
core +1 more source
Incontinentia Pigmenti in the Neonatal Period [PDF]
, 2011 Incontinentia pigmenti (IP) is a rare multisystem disease, X linked dominant disorder. As all X linked dominant diseases, it is usually male-lethal. Female newborn admitted to the neonatal intensive care unit on the fi rst day of life was diagnosed as ...
Barroso, R +6 more
core +2 more sources
Fetal MRI in Prenatal Diagnosis of CNS Abnormalities
Pediatric Neurology Briefs, 2009 The value of fetal MRI (fMRI) compared to ultrasound in the prenatal detection of CNS abnormalities and impact on counseling were determined in 25 pregnant women examined at University of Dusseldorf, Germany.
J Gordon Millichap
doaj +1 more source
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia
Annals of Clinical and Translational Neurology, 2021 Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain‐specific somatic Ras homolog enriched in ...
Wei Shern Lee +9 more
doaj +1 more source
Current techniques in postmortem imaging with specific attention to paediatric applications [PDF]
, 2009 In this review we discuss the decline of and current controversies regarding conventional autopsies and the use of postmortem radiology as an adjunct to and a possible alternative for the conventional autopsy.
Rick R. van Rijn +1 more
core +2 more sources
Report of a newborn with hemimegalencephaly in association with Klippel-Trenaunay-Weber syndrome [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2005 Klippel-Trenaunay-Weber syndrome (KTW) is a rare phacomatosis whose main characteristics are: cutaneous angiomas (vascular nevi), varicose veins (arteriovenous fistulae) and hemihypertrophy of bones and soft tissues. This is a case report of KTW syndrome
Obradović Slobodan +3 more
doaj +1 more source
PI3K/AKT Pathway and Brain Malformations
Pediatric Neurology Briefs, 2015 Investigators from Seattle Children's Research Institute, University of Washington, and collaborating institutions sought to evaluate 10 genes in the PI3K/AKT pathway as it relates epileptogenic brain malformations in patients with megalencephaly ...
Gavin B. Rice, Nitin R. Wadhwani
doaj +1 more source