Search results for "Spasms"
showing 6 items of 16 documents
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?
2013
Background: West syndrome is an age-dependent epilepsy with onset peak in the first year of life whose aetiology may be symptomatic or cryptogenic. Long-term cognitive and neurological prognosis is usually poor and seizure outcome is also variable. Over the past two decades a few patients with favourable cognitive outcome and with total recovery from seizures were identified among the cryptogenic group suggesting an idiopathic aetiology. Recent research has described two children with idiopathic WS who later developed a childhood absence epilepsy. Case presentation: We reviewed the medical records of patients with West syndrome admitted to the our Child Neuropsychiatry Unit in the last 15 y…
Clinical experience of a tricomponent acellular pertussis vaccine combined with diphtheria and tetanus toxoids for primary vaccination in 22,505 infa…
1996
Abstract OBJECTIVES: To assess the safety and tolerability of 12 lots of SmithKline Beecham Biologicals' diphtheria-tetanus-tricomponent acellular pertussis vaccine (DTaP) in a large cohort of 22,000 vaccinees, with detailed analyses of reactivity, immunogenicity, and immune response to pertussis toxin in subsets. METHODS: In a prospective, double-blind, multicenter trial in Germany, 22,505 healthy infants received three vaccinations of DTaP at age 3, 4, and 5 months. Serious adverse events were followed for 1 month after each vaccination, and neurologic events for 1 year or longer. Serum IgG antibodies were assayed before vaccination and 1 month after vaccination. RESULTS: After 67,000 dos…
PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
2021
Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.MethodsData on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.ResultsA cohort of 142 patients was include…
Early stimulation: psychomotor development of two girls with Aicardi syndrome.
1987
Summary The psychomotor development achieved by two girls with the Aicardi syndrome is described. Until now this syndrome has been considered to produce a total dissociation from the environment in those affected. The results of early intervention, although not spectacular, are sufficient to recommend early stimulation in these children.
Infantile spasms—A multidisciplinary challenge
1987
Is it not surpnsmg that we are unaware of an earlier description of infantile spasms (IS) than that of Dr West from 1841 [1] , though this is hardly a new disease? May be, it needed an experienced observer to delineate these paroxysmal behavioral patterns against the background of abnormal psychomotor development. Up to now , we are by no means less puzzled by this manifestation of seizures than our professional forefather. It was only recently that we realized that the West syndrome consists not only of more or less typical serial seizures, usually a pathognomonic EEG pattern, and developmental arrest [2] , but has to be regarded as an encephalopathy [3-5] interfering with virtually all hi…
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
2014
International audience; BACKGROUND:Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with infantile epileptic encephalopathy (IEE), including one who deceased prior to DNA sampling.METHODS:By combining array comparative genomic hybridisation, targeted Sanger sequencing and next generation sequencing, we identified five further patients from four families with IEE due to biallelic alterations of WWOX.RESULTS:We identified eight deleterious WWOX alleles consisting in four deletions, a four base-pair frameshifting deletion, one missense and two nonsense mutations. Genotype-phenotype correl…