Results 71 to 80 of about 146,603 (292)
Annals of the Child Neurology Society, 2023 Infantile epileptic spasm syndrome (IESS) is an epileptic encephalopathy with often devastating developmental consequences. Most children with IESS have a known etiology, although differing in proportion by geographical settings.
J. Wanigasinghe +6 more
semanticscholar +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms [PDF]
, 2010 Jason T Lerner1, Noriko Salamon2, Raman Sankar1,31Departments of Pediatrics, 2Radiological Sciences, 3Neurology, David Geffen School of Medicine, University of California Los Angeles and Mattel Children’s Hospital at UCLA, Los Angeles, CA ...
Jason T Lerner +2 more
core +3 more sources
NEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex
Advanced Science, EarlyView.The primary neurological manifestations of tuberous sclerosis complex (TSC) are intractable epilepsy and intellectual disability. NEAT1 is differentially expressed in TSC‐related epilepsy and influences neuronal excitability by regulating the PI3K/AKT/mTOR signaling pathway.
Suhui Kuang +8 more
wiley +1 more source
Frontiers in Neurology, 2018 ObjectiveDespite the serious neurodevelopmental sequelae of epileptic encephalopathy during infancy, the pathomechanisms involved remain unclear. To find potential biomarkers that can reflect the pathogenesis of epileptic encephalopathy, we explored the ...
Minyoung Lee +10 more
doaj +1 more source
Stabilized Ion Selectivity Corrects Activation Drift in Kalium Channelrhodopsins
Advanced Science, EarlyView.As newly emerged optogenetic tools, potassium channelrhodopsins (KCRs) can drift from inhibition to activation during illumination as K⁺ selectivity declines. It is shown that both the absolute K⁺/Na⁺ permeability ratio and its stability over time govern this drift, identify KCR1‐C29D as a reliably inhibitory variant, and outline design principles for ...
Xiao Duan +14 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2022 Background The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous ...
Tangfeng Su +4 more
doaj +1 more source
Longer Duration of Epilepsy and Earlier Age at Epilepsy Onset Correlate with Impaired Cognitive Development in Infancy [PDF]
, 2009 We assessed the impact of age at onset of epilepsy and duration and frequency of seizures on cognitive development in children less than 3 years old. Retrospective analysis was conducted on clinical data and neuropsychological testing of 33 infants with ...
Vendrame, Martina
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
Infantile spams without hypsarrhythmia: A study of 16 cases [PDF]
, 2010 In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG.
Caraballo, Roberto Horacio +7 more
core +1 more source