Rasmussen’s encephalitis with persistent epilepsy in a young man
Clinical Case Reports, 2021 Rasmussen's encephalitis (RE) is an uncommon cause of the seizure. Important key findings of RE include intractable seizure activity in children, progressive atrophy of the involved hemisphere, and small hemisphere with the large ventricle.
Van Trung Hoang +4 more
doaj +1 more source
Evidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients. [PDF]
, 2019 Brain-infiltrating lymphocytes (BILs) were isolated from resected brain tissue from 10 pediatric epilepsy patients who had undergone surgery for Hemimegalencephaly (HME) (n = 1), Tuberous sclerosis complex (TSC) (n = 2), Focal cortical dysplasia (FCD) (n
Chang, Julia W +8 more
core +5 more sources
Hemimegalencephaly: A Foetal Tauopathy
Pediatric Neurology Briefs, 2013 Researchers at University of Calgary and Alberta Children's Hospital, Canada; and University of Pennsylvania, Philadelphia studied brain resections from 3 male infants with hemimegalencephaly (HME) and refractory epilepsy.
J Gordon Millichap
doaj +1 more source
Malformações do desenvolvimento cortical: conceitos atuais e revisão de neuro-imagem avançada [PDF]
, 2011 Malformations of cortical development (MCD) result from disruptions in the complex process of the human brain cortex formation and are highly associated to severe epilepsy, neurodevelopmental delay and motor dysfunction.
ANDRADE, Celi Santos +1 more
core +2 more sources
Developmental Outcome Following Hemispherectomy for Hemimegalencephaly
Pediatric Neurology Briefs, 2013 Investigators at the National Center of Neurology and Psychiatry, Tokyo, studied the effect of early hemispherectomy on development in a consecutive series of 12 infants with hemimegalencephaly (HME) and epileptic encephalopathy.
J Gordon Millichap
doaj +1 more source
mTOR signaling and its roles in normal and abnormal brain development [PDF]
, 2014 Target of rapamycin (TOR) was first identified in yeast as a target molecule of rapamycin, an anti-fugal and immunosuppressant macrolide compound. In mammals, its orthologue is called mTOR (mammalian TOR). mTOR is a serine/threonine kinase that converges
Hiroyuki Nawa, Nobuyuki Takei
core +2 more sources
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. [PDF]
, 2020 BackgroundThe contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood.
Bernstein, Daniel +23 more
core +3 more sources
Case Report: Hemispherotomy in the First Days of Life to Treat Drug-Resistant Lesional Epilepsy
Frontiers in Neurology, 2021 Background: Neonatal drug-resistant epilepsy is often caused by perinatal epileptogenic insults such as stroke, ischemia, hemorrhage, and/or genetic defects. Rapid seizure control is particularly important for cognitive development.
Konstantin L. Makridis +16 more
doaj +1 more source
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. [PDF]
, 2014 Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital ...
Balasubramanian, M. +30 more
core +1 more source
Genetic Basis for Classification of CNS Malformations
Pediatric Neurology Briefs, 2001 A new classification of malformations of the nervous system based on patterns of genetic expression integrated with descriptive morphogenesis is proposed by specialists in pediatric neurology, neuropathology and embryology at the University of Washington
J Gordon Millichap
doaj +1 more source