نتایج جستجو برای: ohtahara syndrome
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Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for m...
Heterozygous mutations in the syntaxin-binding protein 1 (STXBP1) gene, which encodes Munc18-1, a core component of the presynaptic membrane-fusion machinery, cause infantile early epileptic encephalopathy (Ohtahara syndrome), but it is unclear how a partial loss of Munc18-1 produces this severe clinical presentation. Here, we generated human ES cells designed to conditionally express heterozyg...
Commentary Early infantile epileptic encephalopathy (EIEE) refers to severe early onset epilepsy with associated neurodevelopmental abnormalities. The term was used initially to reflect EIEE with suppression-burst pattern on EEG, or Ohtahara syndrome, but it has been applied more widely to a larger and growing group of epileptic encephalopathies; patients with mutations in the EIEE genes displa...
هدف: در این مطالعه به بررسی اثر تزریق کورتیکواسترویید در درمان infrapatellar fat pad syndrome در بیماران مراجعه کننده به درمانگاه ارتوپدی بیمارستان امیرالمومنین (ع) تهران در سال 1388 پرداختیم.روش مطالعه: این مطالعه به صورت یک بررسی مداخله ای (interventional) از نوع نیمه تجربی (quasi-experimental) انجام گردیده است. جامعه مورد بررسی شامل 60 نفر از افراد مبتلا به infrapatellar fat pad syndrome بود...
In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and electro-physiological processes have been implicated in disease causation. The clinical phenotypes share many features such as complex seizure types and developmental delay. Molecular diagnosis has historically been confined to sequential testing of candidate genes known to be asso...
Neuronal migration disorders are human (or animal) diseases that result from a disruption in the normal movement of neurons from their original birth site to their final destination during early development. As a consequence, the neurons remain somewhere along their migratory route, their location depending on the pathological mechanism and its severity. The neurons form characteristic abnormal...
مقدمه : impingement syndrome یکی از بیماریهای شایع است که با درد شانه ومحدودیت حرکت در مفصل شانه همراه می باشد. با توجه به اهمیت این موضوع و لزوم دستیابی به روشی مطمئن جهت درمان مبتلایان به این بیماری، در این مطالعه به بررسی میزان اثربخشی استفاده از glyceril trinitrate بصورت موضعی در درمان مبتلایان بهimpingement syndrome پرداختیم. مواد و روشها: در این مطالعه که از نوع مداخله ای-تحلیلی میباشد60...
A diagnostic scheme for people with epileptic seizures and with epilepsy proposed by ILAE Commission (2001) (Engel, Jr. et al, 2001) newly adopted the concept of “epileptic encephalopathy” as one of new key terms. It is defined as a condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function, but this definition may be ambiguous. ...
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