Clinical and MRI findings of a suspected cortical malformation presented as a giant cerebral pseudomass in a German Shepherd dog [PDF]
Clinical Case Reports, 2023 A 5‐month‐old German Shepherd dog was presented with cluster seizures. MR imaging showed a large irregular pseudomass in the central region of the cranial cavity, compatible with a malformation of cortical development.
Jos Jacqueline Bongers +3 more
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Variants in LAMC3 Causes Occipital Cortical Malformation [PDF]
Frontiers in Genetics, 2021 Occipital cortical malformation (OCCM) is a disease caused by malformations of cortical development characterized by polymicrogyria and pachygyria of the occipital lobes and childhood-onset seizures.
Xiaohang Qian +12 more
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Prenatal MRI features of fetal complete agenesis of the corpus callosum associated with unilateral hemispheric cortical malformation: a retrospective study [PDF]
Frontiers in RadiologyIntroductionTo explore the prenatal MRI features of fetal complete agenesis of the corpus callosum (cACC) associated with unilateral hemispheric cortical malformation.MethodsA retrospective analysis was conducted on 101 cases diagnosed with cACC via ...
Huihui Lin +4 more
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Identification of genes associated with cortical malformation using a transposon-mediated somatic mutagenesis screen in mice [PDF]
Nature Communications, 2018 Cortical malformations have a variety of causes. Here the authors use transposon mutagenesis to insert mutations into neural stem cells in the developing mouse cortex to screen for new candidate genes for cortical malformation, and validate some targets ...
I-Ling Lu +17 more
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Metabolic changes in mTOR pathway-associated cortical malformation [PDF]
Frontiers in NeuroscienceMalformations of cortical development (MCD) are a common cause of epilepsy, autism spectrum disorder (ASD), and intellectual disability (ID). A unifying mechanistic etiology for epilepsy, ASD, and ID has not been found due, in part, to the heterogeneity ...
Aditi Biswas +2 more
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Novel Homozygous LAMC3 Frameshift Variant Associated with Confluent Leukoencephalopathy and Low-Grade Tectal Glioneuronal Tumor: Expanding the Phenotypic Spectrum with Bioinformatic Characterization [PDF]
LifeBackground: Biallelic loss-of-function variants in LAMC3, encoding laminin gamma-3, cause occipital cortical malformation (OMIM#614115). White matter disease and intracranial neoplasia have not been reported in this spectrum. We report a novel homozygous
Serdar Bozlak +8 more
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Quantifying extra‐lesional interhemispheric cortical asymmetry in focal cortical dysplasia type II [PDF]
Epilepsia OpenObjective Focal cortical dysplasia type II (FCDII) is a cortical malformation representing a common cause of surgically treatable drug‐resistant epilepsy.
Faezeh Heidari +3 more
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Malformations of cortical development: genetic mechanisms and diagnostic approach [PDF]
Korean Journal of Pediatrics, 2017 Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse
Jeehun Lee
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Diagnostics, 2023 Focal cortical dysplasia (FCD) represents a heterogeneous group of morphological changes in the brain tissue that can predispose the development of pharmacoresistant epilepsy (recurring, unprovoked seizures which cannot be managed with medications). This
Dimitar Metodiev +5 more
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Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells
Frontiers in Neuroscience, 2022 The cerebral cortex is a structure that underlies various brain functions, including cognition and language. Mammalian cerebral cortex starts developing during the embryonic period with the neural progenitor cells generating neurons.
Chiara Ossola, Nereo Kalebic
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