نتایج جستجو برای: ohtahara syndrome
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12/17 Clinical Features and Molecular Genetics: Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is a severe form of epilepsy characterized by frequent tonic spasms with onset in the first months of life. EEG reveals suppression-burst patterns, characterized by highvoltage bursts alternating with almost flat suppression phases. Seizures are medically intractable...
Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that ...
Neonatal seizures frequently accompany neonatal encephalopathies. Seizures occur in approximately 1.8-5/1,000 live births in this country and are caused by virtually any condition that affects neonatal brain function. This review provides a simple classification of seizures and emphasizes that many abnormal intermittent behaviors in this age group are not accompanied by ictal EEG patterns. Addi...
A 5 day old male newborn delivered at 40 weeks gestation by emergency C-section due to fetal distress with Apgar scores of 5 and 6, at 1 and 5 minutes respectively, was noted to be hypotonic at birth with joint contractures. He required resuscitation and endotracheal intubation due to apnea at birth. On day 4 of life he developed tonic seizures and was treated with the anticonvulsant, phenobarb...
Epileptiform abnormalities contribute to progressive deterioration of cerebral function. Considered: Ohtahara Syndrome; Early myoclonic epileptic encephalopathy; West Syndrome; Dravet Syndrome; Myoclonic status in not progressive encephalopathies; CDKL5 encephalopaty. Ohtahara syndrome (OS) early infantile encephalopathy (EIEE). Most cases linked to cerebral malformations or very occasionally t...
Dr. Ohtahara’s discussion addressed the results of a postmarketing study of adverse events reported by Japanese patients treated with zonisamide monotherapy and polytherapy. The 1512 study participants included both adults and children with partial and generalized seizures and no previous zonisamide treatment. Adverse effects were reported and categorized by each participating physician and ran...
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