Posterior quadrantic dysplasia: An unusual cause of focal seizures
Archives of Medicine and Health Sciences, 2021 Hemimegalencephaly (HME) is one of the rare malformations of cortical development that can present in children and in adults with refractory seizures. One of the localized forms of HME is posterior quadrantic dysplasia (PQD).
Krishnan Balagopal +2 more
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A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
core +3 more sources
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly [PDF]
, 2017 Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and ...
Aaron M Wenger +68 more
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Glioblastoma Multiforme in a Patient with Isolated Hemimegalencephaly
Journal of Neurological Surgery Reports, 2015 We present an exceptional case of a patient with hemimegalencephaly and secondary intractable epilepsy treated with vagus nerve stimulation (VNS) and subsequent glioblastoma development in the hemimegalencephalic hemisphere 6 years after surgery. VNS (at
Jan Chrastina +3 more
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Hemimegalencephaly with adult-onset seizures and normal intellectual function: A rare case report
Archives of Medicine and Health Sciences, 2023 Hemimegalencephaly (HME) is one of the rarest congenital malformations of the brain characterized by abnormal enlargement of a cerebral hemisphere. It can present as an isolated sporadic form or associated with other neurodevelopmental syndromes.
Amit Kumar +2 more
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Proton Magnetic Resonance Spectroscopy in Patients with Migration Disorders [PDF]
, 1999 Proton Magnetic Resonance Spectroscopy (1H-MRS) can be used to detect cerebral metabolites including N-acetylaspartate (NAA)，creatine (Cr) and choline (Ch). Hence，clinical applications of this method for neuropediatric diseases can be expected.
Asano, Takashi +6 more
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Cellular antiseizure mechanisms of everolimus in pediatric tuberous sclerosis complex, cortical dysplasia, and non-mTOR-mediated etiologies. [PDF]
, 2018 The present study was designed to examine the potential cellular antiseizure mechanisms of everolimus, a mechanistic target of rapamycin (mTOR) pathway blocker, in pediatric epilepsy cases. Cortical tissue samples obtained from pediatric patients (n
Barry, Joshua +8 more
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The Putative Role of mTOR Inhibitors in Non-tuberous Sclerosis Complex-Related Epilepsy
Frontiers in Neurology, 2021 Epilepsy affects ~5 out of every 10,000 children per year. Up to one-third of these children have medically refractory epilepsy, with limited to no options for improved seizure control.
Hannah E. Goldstein +3 more
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mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. [PDF]
, 2016 Several preclinical and some clinical studies have revealed that the mammalian target of rapamycin (mTOR) signaling pathway is involved in both genetic and acquired epilepsy syndromes.
Citraro, R +4 more
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대한영상의학회지, 2019 A 27-year-old female presented with repeated seizures. As the left frontal lobe volume was enlarged in comparison with the right frontal lobe, hemimegalencephaly was suggested.
Seung-Jin Yoo +5 more
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