Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIId
Frontiers in Neurology, 2019 Hemiconvulsion-hemiplegia-epilepsy syndrome (HHES) is a subset of acute encephalopathy characterized by infantile-onset with acute hemiconvulsive febrile status and subsequent unilateral cerebral atrophy and hemiparesis.
Shinji Itamura +13 more
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mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy
Neurobiology of Disease, 2023 The mechanistic target of rapamycin (mTOR) signaling pathway is an essential regulator of numerous cellular activities such as metabolism, growth, proliferation, and survival.
Anna Gerasimenko +2 more
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Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation [PDF]
, 2006 Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, with PMG reported ...
Earl, Dawn +49 more
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Severe neonatal epileptic encephalopathy and KCNQ2 mutation: neuropathological substrate?
Frontiers in Pediatrics, 2014 Background:Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes.
Charlotte eDalen Meurs-Van Der Schoor
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Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
Annals of Indian Academy of Neurology, 2013 Brain malformations such as agenesis and dysgenesis of corpus callosum, pituitary hypoplasia, hypothalamic hamartoma, mesial temporal periventricular heterotopia, and abnormally oriented and misshapen hippocampi have been described with SOX2 gene ...
Jay Desai, Tena Rosser
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Histopathology of Polymicrogyria
Pediatric Neurology Briefs, 2015 Investigators from Sainte Justine Hospital (Montreal), Montreal Neurological Hospital and Institute, King's College Hospital (London), and John Radcliffe Hospital (Oxford) retrospectively reviewed medical records, autopsy reports, and genetic studies ...
Iga Fudyma, Nitin R. Wadhwani
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Malformations of cortical development [PDF]
Arquivos de Neuro-Psiquiatria, 2009 Malformations of cortical development (MCD) have been increasingly identified. The purpose of this presentation is to review the current knowledge of the MCD. Before we address this issue, we will briefly present a review of cortical development. The second part of this presentation will address the most important MCD.
openaire +4 more sources
Long-term outcome of the ketogenic diet for intractable childhood epilepsy with focal malformation of cortical development. [PDF]
, 2008 OBJECTIVE: We evaluated the efficacy and long-term outcome of the ketogenic diet in patients with intractable childhood epilepsy as a result of focal malformation of cortical development.
김흥동 +6 more
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Frontiers in Cellular Neuroscience, 2015 The actin cytoskeleton regulates many important cellular processes in the brain, including cell division and proliferation, migration, and cytokinesis and differentiation. These developmental processes can be regulated through actin dependent vesicle and
Gewei eLian, Volney eSheen
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Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: Unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly [PDF]
, 2020 東京女子医科大学博士(医学)博士(医学) 乙第3065号(主論文の要旨、要約、審査結果の要旨、本文)，著者名:Asako ARAI・Takashi SAITO・Sae HANAI・Sayuri SUKIGARA・Shin NABATAME・Taisuke OTSUKI・Eiji NAKAGAWA・Akio TAKAHASHI・Yuu KANEKO・Takanobu KAIDO・Yuko SAITO・Kenji SUGAI・Masayuki SASAKI・Yu-Ichi GOTO・Masayuki ...
池田, 麻子
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