Megalencephaly: Classification, Genetic Causes, and Related Syndromes

R Leonardi, L Licciardello, A Zanghì… - Journal of Pediatric …, 2024 - thieme-connect.com
Megalencephaly is a developmental disorder due to an abnormal neuronal proliferation and
migration during intrauterine or postnatal brain development that leads to cerebral …

Developing novel experimental models of m-TORopathic epilepsy and related neuropathologies: translational insights from zebrafish

MS de Abreu, KA Demin, MM Kotova, F Mirzaei… - International Journal of …, 2023 - mdpi.com
The mammalian target of rapamycin (mTOR) is an important molecular regulator of cell
growth and proliferation. Brain mTOR activity plays a crucial role in synaptic plasticity, cell …

Hemimegalencephaly: A Systematic Comparison of Functional and Anatomic Hemispherectomy for Drug-Resistant Epilepsy

K Goel, A Ghadiyaram, A Krishnakumar… - …, 2024 - journals.lww.com
METHODS: PubMed, Web of Science, and Cumulative Index to Nursing and Allied Health
Literature were searched from inception to Jan 13th, 2023, for primary literature reporting …

[HTML][HTML] Prenatal diagnosis of hemimegalencephaly via transabdominal and transvaginal ultrasonography: a case description

Y Yao, G Wang, Q Lan, T Li, Y Wang… - Quantitative Imaging in …, 2024 - ncbi.nlm.nih.gov
Discussion HME is a rare congenital brain developmental malformation, which is
characterized by hamartomatous hyperplasia in all or part of one side of the cerebral …

Pictorial Essay: 18: F FDG Brain PET-MR in Congenital Brain Anomalies Presenting With Seizures

SS Palaniswamy, P Subramanyam… - Clinical Nuclear …, 2024 - journals.lww.com
Brain development is a very complex process that starts within first 20 days of gestation. By
the third week, prosencephalon (forebrain), mesencephalon (midbrain), and …

[HTML][HTML] Rasmussen's encephalitis in a pediatric patient with subtle early MRI changes: A case report

J Peeke, R Tang-Wai, A Robison, A Achiriloaie - Radiology Case Reports, 2024 - Elsevier
Rasmussen's encephalitis (RE) is a progressive inflammatory neurological process most
commonly occurring in children characterized by drug-resistant focal epilepsy, hemiplegia …

[PDF][PDF] Fetal Hemimegalencephaly Associated With SENP7 Mutation: About a Case

MR Rodríguez, AD Moreno, JL Alcolea… - Revista Colombiana de … - rcr.acronline.org
We present a case of a 26-week fetus diagnosed by in utero magnetic resonance imaging
(MRI) with total left hemimegalencephaly, associated with a SENP7 gene variant not …

[PDF][PDF] AUTHOR'S GUIDELINE

SK Kamalakannan, LDV Nair, S Vignesh, KS Multani… - ijdbp.in
Many common problems during the newborn period like prematurity, maternal health issues,
difficulties during labor and birth, respiratory distress syndrome, and hemolytic anemia of …

Hemimegalencefalia fetal asociada a mutación en SENP7. A propósito de un caso

MR Rodríguez, AD Moreno, JL Alcolea… - Revista colombiana …, 2022 - rcr.acronline.org
Se presenta un caso de un feto de 26 semanas al cual se le diagnostica mediante
resonancia magnética (RM) fetal hemimegalencefalia total izquierda, asociada con una …

[HTML][HTML] MedLink®, LLC

L Flores-Sarnat - medlink.com
Hemimegalencephaly is a rare central nervous system disorder of neuronal cell lineage,
proliferation, maturation, and migration characterized by in utero enlargement of all or most …