Results 51 to 60 of about 2,873 (179)
Definition and diagnostic criteria of sleep-related hypermotor epilepsy [PDF]
, 2016 The syndrome known as nocturnal frontal lobe epilepsy is recognized worldwide and has been studied in a wide range of clinical and scientific settings (epilepsy, sleep medicine, neurosurgery, pediatric neurology, epidemiology, genetics). Though uncommon,
Bassetti, C +29 more
core +9 more sources
Early lipofuscin accumulation in Frontal Lobe Epilepsy [PDF]
, 2016 OBJECTIVE: This study reports on a novel brain pathology in young patients with frontal lobe epilepsy (FLE) that is distinct from focal cortical dysplasia (FCD).
Asinof +47 more
core +2 more sources
A Diverse Array of Cancer-Associated MTOR Mutations Are Hyperactivating and Can Predict Rapamycin Sensitivity [PDF]
, 2014 Genes encoding components of the PI3K–AKT–mTOR signaling axis are frequently mutated in cancer, but few mutations have been characterized in MTOR, the gene encoding the mTOR kinase.
Beck, Andrew H. +8 more
core +1 more source
Hemimegalencephaly with Facial Congenital Infiltrating Lipomatosis in a Child.
Iranian Journal of Public Health, 2014 We report an unusual case of hemimegalencephaly (HMG) associated with ipsilateral congenital-infiltrating lipomatosis of the face in a five-month-old boy.
Adrián Santana-Ramirez +4 more
doaj
, 2013 Learning objectives: Description through two cases, one type of neuronal migration anomaly that occurs during cortical...
openaire +2 more sources
South African Journal of Radiology, 2015 Congenital infiltrating lipomatosis of the face (CILF) is a rare disorder in which overgrowth of fatty tissue with infiltration of underlying structures leads to craniofacial deformities and asymmetry.
Eric Gous +2 more
doaj +1 more source
Peri-insular hemispherotomy in paediatric epilepsy [PDF]
, 2018 Objects: Outline the indications, investigation, surgical technique, pitfalls, complications and benefits of peri-insular hemispherotomy (PIH) in the surgical treatment of paediatric epilepsy.
Daniel, Roy, Villemure, Jean-Guy
core
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome [PDF]
, 2014 Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387). Here we report that individuals with MPPH lacking upstream PI3K-
A Kida +56 more
core +4 more sources
Method for performing cerebral perfusion-weighted MRI in neonates [PDF]
, 2018 Cerebral perfusion-weighted imaging (PWI) in neonates is known to be technically difficult and there are very few published studies on its use in preterm infants.
Alamo, Leonor +5 more
core
La lipomatosi congenita infiltrante del volto. Caso Clinico [PDF]
, 2016 Congenital infiltrating lipomatosis of the face, first described by Beck in 1836, is a rare condition of unknown etiology, characterized by widespread infiltration of mature fat cells in the context of tissues softening of the face, with associated ...
Bongini, U. +5 more
core