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
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A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion [PDF]
, 2014 Background: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases.
An, Yu +10 more
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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
Short term outcomes of topiramate monotherapy as a first-line treatment in newly diagnosed West syndrome [PDF]
, 2011 PurposeTo investigate the efficacy of topiramate monotherapy in West syndrome prospectively.MethodsThe study population included 28 patients (15 male and 13 female children aged 2 to 18 months) diagnosed with West syndrome. After a 2-week baseline period
Gyu Min Lee +3 more
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Treatment of infantile spasms [PDF]
Epilepsia Open, 2018 SummaryThe treatment of infantile spasms is challenging, especially in the context of the following: (1) a severe phenotype with high morbidity and mortality; (2) the urgency of diagnosis and successful early response to therapy; and (3) the paucity of effective, safe, and well‐tolerated therapies.
openaire +2 more sources
BMC Pediatrics, 2010 Background Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment.
Ishaque Sidra +3 more
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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
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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
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Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]
, 2010 Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F +14 more
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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
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