Focal cortical dysplasia: Updates
Indian Journal of Pathology and Microbiology, 2022 Focal cortical dysplasias (FCDs) represent the third most frequent cause of drug-resistant focal epilepsy in adults (after hippocampal sclerosis and tumours) submitted to surgery, and the most common in the pediatric age group.
Jorge Pinheiro, Mrinalini Honavar
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Cortical Clefts and Cortical Bumps: A Continuous Spectrum [PDF]
Journal of Clinical and Diagnostic Research, 2016 Cortical ‘clefts’ (schizencephaly) and cortical ‘bumps’ (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons.
Asthik Biswas +3 more
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A developmental and genetic classification for malformations of cortical development [PDF]
, 2005 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
Guerrini, R +4 more
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Malformations of cortical development on fetal MRI. [PDF]
J Clin Imaging SciNeuronal migrational anomalies, cortical dysplasias, hemimegalencephaly, and microcephalies are collectively termed malformations of cortical development (MCD). MCDs have multifactorial etiologies including genetic, environmental, vascular, and infectious insults between the late 1 st ...
Ganapathy SS +3 more
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Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development [PDF]
Turk J Med Sci, 2020 Background and aim: The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years.
Aksel Kiliçarslan Ö +9 more
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Modeling Somatic Mutations Associated With Neurodevelopmental Disorders in Human Brain Organoids
Frontiers in Molecular Neuroscience, 2022 Neurodevelopmental disorders (NDDs) are a collection of diseases with early life onset that often present with developmental delay, cognitive deficits, and behavioral conditions.
Bipan K. Deb +3 more
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Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study [PDF]
Annals of Child NeurologyPurpose Tubulinopathy represents a group of disorders caused by variants in tubulin genes, which present with a wide spectrum of brain malformations. This study was conducted to provide insight into the phenotypic and genetic spectra of tubulinopathy ...
Hey-Joon Son +8 more
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Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) [PDF]
Annals of Child Neurology, 2022 Purpose This study presents the characteristics of patients with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) with SLC35A2 somatic variants in the brain who underwent epilepsy surgery and showed clinical
Hee-Jeong Kang +8 more
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Epileptogenic malformations of cortical development: when evolution goes awry
Acta Medica Lituanica, 2014 Background. Since the time of its origin in a mammalian ancestor, perhaps 250 million years ago, the neocortex has undergone expansion in both relative and absolute size.
Birutė Tumienė, Algirdas Utkus
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Pathology of surgically remediable epilepsy: How to evaluate
Indian Journal of Pathology and Microbiology, 2022 Epilepsy surgery is a well-established treatment modality in selected cases of medically refractory epilepsy. Advances in neuroimaging technology has greatly facilitated detection of lesions that are surgically amenable. Hippocampal sclerosis is the most
Rajalakshmi Poyuran
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