نتایج جستجو برای: ohtahara syndrome
تعداد نتایج: 621920 فیلتر نتایج به سال:
PURPOSE STXBP1 (MUNC18-1) mutations have been associated with various types of epilepsies, mostly beginning early in life. To refine the phenotype associated with STXBP1 aberrations in early onset epileptic syndromes, we studied this gene in a cohort of patients with early onset epileptic encephalopathy. METHODS STXBP1 was screened in a multicenter cohort of 52 patients with early onset epile...
Seizures in a term infant with Ohtahara syndrome, associated with polymicrogyria, and a pre-term neonate with similar clinical features, failed to respond to conventional anticonvulsants, but were controlled with vigabatrin monotherapy. Another infant with Aicardi syndrome improved with vigabatrin. Autopsy in the first infant showed no evidence of intramyelinic oedema. The developmental outcome...
This report illustrates the usefulness and safety of very early hemispherotomy in an infant with Ohtahara syndrome (OS) secondary to left parieto-occipital megalencephaly. It provides evidence that surgical intervention might provide promising results in selected cases, and that young age is not a contraindication for this type of surgery.
Early infantile epileptic encephalopathy or EIEE (Ohtahara syndrome; OS) is a kind of intractable seizure that begins in neonatal age with sudden onset of tonic spasms in series or single suppression-burst S-B in EEG. Imaging shows anatomic defects such as migration disorders and generalized atrophy with essentially normal metabolic tests. The seizures often change to West’s syndrome (WS) or Le...
Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X-linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome. We performed the molecular analysis of the gene and identified a new missense mutation.
We investigated the relationship between the scalp distribution of fast (40-150 Hz) oscillations (FOs) and epileptogenic lesions in West syndrome (WS) and related disorders. Subjects were 9 pediatric patients with surgically confirmed structural epileptogenic pathology (age at initial electroencephalogram [EEG] recording: mean 7.1 months, range 1-22 months). The diagnosis was WS in 7 patients, ...
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