Original article Hemimegalencephaly: foetal tauopathy with mTOR hyperactivation and neuronal lipidosis
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چکیده
منابع مشابه
Hemimegalencephaly: foetal tauopathy with mTOR hyperactivation and neuronal lipidosis.
BACKGROUND Hemimegalencephaly (HME) is a hamartomatous malformation of one cerebral hemisphere. As this is a disorder of cellular growth and lineage, we sought evidence of an early ontogenetic disturbance of microtubular assembly or function. MATERIAL AND METHODS Three male infants with HME had brain resections for refractory epilepsy. One died postoperatively at 2.5 months and an autopsy was...
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متن کاملArticle Type: Original Article
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متن کاملMechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation
The phosphatidylinositol-3-kinase/phosphatase and tensin homolog (PTEN)-mammalian target of rapamycin (mTOR) pathway regulates a variety of neuronal functions, including cell proliferation, survival, growth, and plasticity. Dysregulation of the pathway is implicated in the development of both genetic and acquired epilepsies. Indeed, several causal mutations have been identified in patients with...
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ژورنال
عنوان ژورنال: Folia Neuropathologica
سال: 2012
ISSN: 1641-4640
DOI: 10.5114/fn.2012.32363