"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]
, 2011 The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
Alberto Verrotti +7 more
core +2 more sources
Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents [PDF]
, 2012 Background Infantile spasms (IS; West syndrome) is a severe form of encephalopathy that typically affects infants younger than 2 years old. Pediatricians, pediatric neurologists, and other pediatric health care providers are all potentially key early ...
Gibson, Patricia A. +6 more
core +2 more sources
The early electroclinical manifestations of infantile spasms: A video EEG study
Annals of Indian Academy of Neurology, 2016 Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature.
Mary Iype +4 more
doaj +1 more source
A team science approach to discover novel targets for infantile spasms (IS)
Epilepsia Open, 2021 Infantile spasms (IS) is a devastating epilepsy syndrome that typically begins in the first year of life. Symptoms consist of stereotypical spasms, developmental delay, and electroencephalogram (EEG) that may demonstrate Hypsarhythmia.
The CURE Infantile Spasms Consortium, CURE Staff +2 more
doaj +1 more source
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]
, 2017 Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K +17 more
core +2 more sources
Limited efficacy of zonisamide in the treatment of refractory infantile spasms
Epilepsia Open, 2020 A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single‐center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of ...
Shaun A. Hussain +7 more
doaj +1 more source
Heliyon, 2023 Background: We describe patient characteristics and response to initial treatment in a large case series of children presenting with infantile epileptic spasms syndrome to a tertiary-care hospital with a pediatric neurology service in Bangladesh.
Christina Briscoe Abath +11 more
doaj +1 more source
Lennox-Gastaut Syndrome: A State of the Art Review. [PDF]
, 2017 Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting ...
Mastrangelo, Mario
core +1 more source
RARS2 mutations in a sibship with infantile spasms [PDF]
, 2016 Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum.
Bras, J +13 more
core +1 more source
Short Course and Early Switch of Vigabatrin for Infantile spasms [PDF]
Annals of Child Neurology, 2020 Purpose Vigabatrin has proven efficacy in the treatment of infantile spasms, but it carries the risk of irreversible visual field constriction. The incidence of vigabatrin-induced visual field constriction seems to depend on the extent of vigabatrin ...
Hye Won Ryu +6 more
doaj +1 more source