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Metabolic etiologies in West syndrome [PDF]
Epilepsia Open, 2018 SummaryWest syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG)abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments.
Salar, Seda +2 more
openaire +3 more sources
Definitions, 2020 West syndrome (WS) or infantile spasm is considered rare, with an estimated incidence of 3 to 4/100,000. It is an epilepsy of infancy, with symptoms beginning between 4 and 6 months of age, but which are quite discreet.
semanticscholar +4 more sources
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency [PDF]
European Journal of Human Genetics, 2018 Laura van Diepen +12 more
openalex +2 more sources
Epilepsy and Neurodevelopmental Outcomes in a Cohort of West Syndrome Beyond Two Years of Age. [PDF]
Indian J Pediatr, 2022 To determine epilepsy and neurodevelopmental outcomes beyond 2 y of age and their putative prognostic factors in children with West syndrome (WS). This cross-sectional study was initiated after approval from Institutional Ethics Committee.
Aramanadka R +5 more
europepmc +2 more sources
Surgical and developmental outcomes of corpus callosotomy for West syndrome in patients without
Epilepsia, 2018 Hiroshi Baba +4 more
openalex +2 more sources
Frontiers in Genetics, 2023 Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant inherited connective tissue condition, characterized by generalized tissue fragility with an increased risk of arterial dissection and hollow organ rupture. In women with vEDS,
Chloe Angwin +5 more
doaj +1 more source
West Syndrome and associated Autism Spectrum Disorder: Proposal for a neuropsychological assessment and intervention protocol [PDF]
Papeles del Psicólogo, 2022 Patients with West Syndrome and associated Autism Spectrum Disorder (ASD) have cognitive deficits (i.e., attentional, mnestic, visuoperceptive, executive function, and language impairments) that may affect their quality of life.
Christian López-Cruz +3 more
doaj +1 more source
Frontiers in Pediatrics, 2022 We present an interesting report of a 5-month-old infant with epileptic spasms and developmental delay who presented with non-isolated ventriculomegaly in utero and whose brain magnetic resonance imaging revealed right ventricular choroid plexus ...
Faliang Zhou +4 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Objective: To characterize the electro-clinical presentation of patients with pyridoxine-dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to determine whether some of them could be diagnosed as de novo West syndrome, i ...
M. Gibaud +15 more
semanticscholar +1 more source
Frontiers in Genetics, 2023 Introduction:AEBP1-related classical-like EDS (clEDS type 2) is a rare type of Ehlers–Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical features with TNXB-related classical-like EDS (or clEDS type 1), including skin ...
Chloe Angwin +5 more
doaj +1 more source