Results 81 to 90 of about 2,875,412 (170)

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations [PDF]

Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder characterized by widespread hamartomas and prominent neurological involvement. It results from pathogenic variants in the TSC1 or TSC2 genes, leading to hyperactivation of the mTOR ...
Bonsignore M., Calì F., Dammino E., Di Napoli C., Elia M., Lo Bianco M., Piccione M., Polizzi A., Praticò A. D., Ruggieri M., Salafia S., Scifo R., Vecchio M., Zonta A.   +13 more
core   +1 more source

Epileptic Spasms: Evidence for oral corticosteroids and implications for low and middle income countries (Systematic Review) [PDF]

, 2020
Implementation of international guidelines for the treatment of epileptic spasms, is challenging when access to adrenocorticotrophic hormone (ACTH) and vigabatrin is restricted, especially in Low and Middle Income Countries (LMIC).
Raga, Sharika Vinod
core   +1 more source

Tuberous sclerosis clinical factors in long term outcome [PDF]

, 2003
EThOS - Electronic Theses Online ServiceGBUnited ...
Hancock, Eleanor
core  

Phenotypic Spectrum of STXBP1 Gene Mutations in an Emirati Case Series. [PDF]

Cureus, 2023
Pawar N, Farid Mir F, Tahir S, Kashyape P, Babiker MOE.   +4 more
europepmc   +1 more source

West Syndrome with Periventricular Leukomalacia: Ten-year Clinical Study [PDF]

, 2008
The aim of the study was to evaluate magnetic resonance imaging (MRI) findings in infants with periventricular leukomalacia (PVL) andWest syndrome (WS) and determine the neurodevelopmental outcome in children withWest syndrome and PVL.
Bernarda Lozić, Biserka Rešić, Dragana Gabrić Pandurić, Jasminka Rešić, Maja Tomasović, Marin Lozić, Radenka Kuzmanić-Šamija   +6 more
core   +1 more source

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1. [PDF]

Hum Genome Var, 2023
Watanabe K, Kubota K, Nakashima M, Saitsu H.   +3 more
europepmc   +1 more source

The Electroencephalographic Characterization of Hypsarrhythmia in Older Pediatric Population With Epilepsy Using Computer-Added Quantitative Methods. [PDF]

Cureus, 2023
Jha K, Kumar T, Zabihullah M, Kumar Y, Kumar R, Mishra A.   +5 more
europepmc   +1 more source

Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants. [PDF]

Arq Neuropsiquiatr, 2023
Sampaio LPB, Henriques-Souza AMM, Silveira MRMD, Seguti L, Santos MLSF, Montenegro MA, Antoniuk S, Manreza MLG.   +7 more
europepmc   +1 more source

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain‐of‐function variant

Epilepsia, 2017
J. Millichap, F. Miceli, Michela De Maria, C. Keator, Nishtha Joshi, B. Tran, M. V. Soldovieri, P. Ambrosino, V. Shashi, M. Mikati, E. Cooper, M. Taglialatela   +11 more
semanticscholar   +1 more source

Phenotype of GABA-transaminase deficiency

Neurology, 2017
Mary Kay Koenig, Ryan M. Hodgeman, James J Riviello, W. Chung, J. Bain, C. Chiriboga, K. Ichikawa, H. Osaka, Megumi Tsuji, K. M. Gibson, P. Bonnen, Phillip L. Pearl   +11 more
semanticscholar   +1 more source