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Around 15% of childhood epilepsies are resistant to antiepileptic drugs, 40% of which are caused by malformations of cortical development (MCD). The current classification scheme for MCD is based on the primary developmental steps of cell proliferation, neuronal migration, and cortical organization. Considering the clinic and molecular alterations, a classification based on main pathways disruption and imaging phenotype has been proposed. MCD were divided into four groups: megalencephaly and focal cerebral dysplasia; tubulinopathies and lissencephalies; polymicrogyria syndromes and heterotopia syndromes. More than 100 genes have been reported to be associated with different types of MCD. Genetic and biological mechanisms include different stages of cell cycle regulation - especially cell division -, apoptosis, cell-fate specification, cytoskeletal structure and function, neuronal migration, and basement-membrane function. The associated epileptic syndromes are varied ranging from early-onset epileptic encephalopathies to focal epilepsies. As MCD are common causes of refractory epilepsy, a prompt diagnosis and the development of different therapeutic options in order to improve the outcome of the patients are essential.
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In recent years the role of the mammalian target of rapamycin (mTOR) pathway has emerged as crucial for normal cortical development. Therefore, it is not surprising that aberrant activation of mTOR is...
Mild malformation of cortical development (mMCD) and focal cortical dysplasia (FCD) subtypes combined are by far the most common histological diagnoses in children who undergo surgery as treatment for...
Brain somatic mutations confer genomic diversity in the human brain and cause neurodevelopmental disorders. Recently, brain somatic activating mutations in MTOR have been identified as a major etiolog...
Epilepsy is among the most common chronic neurologic disorders, with 30%-40% of patients having seizures despite antiepileptic drug treatment. The advent of brain imaging and network analyses has grea...
Type IIB focal cortical dysplasia (FCD) is an important cause of drug-resistant epilepsy. However, balloon cells located in the medial temporal lobe have been seldom reported. We aimed to discuss the ...
Examination of the fetal brain at autopsy is technically challenging because of marked fragility of the brain tissue. Studies have found postmortem fetal MR to be particularly useful in ex...
The identification of the epileptogenic zone (EZ) during pharmacoresistant focal epilepsy presurgical assessment frequently requires intracranial recordings like stereo-electroencephalogra...
Focal cortical dysplasia (FCD) is a common finding in epilepsy surgery in pediatric patients. Children with intractable epilepsy would have extensive tests to identify the cause of epilep...
The purpose of this study is to study how disease processes like tumors or epilepsy spread in the brain.
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Cortical malformations secondary to abnormal cortical maturation after CELL MIGRATION in NEUROGENESIS. This group includes injury to the cortex during later stages of cortical development such as POLYMICROGYRIA and focal cortical dysplasias.
Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal CELL PROLIFERATION or APOPTOSIS; abnormal neuronal migration; and abnormal establishment of cortical organization via neurite extension, synaptogenesis, or neuronal maturation. As well as mutations effecting these developmental processes directly, there are a variety of inborn metabolic errors, such as PEROXISOMAL DISORDERS and mitochondrial and pyruvate metabolic disorders which effect them secondarily and also exhibit these malformations. They are common causes of EPILEPSY and developmental delay and are often a component of multiple congenital anomalies.
Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells.
A neurosurgical procedure that removes or disconnects the epileptogenic CEREBRAL CORTEX of a hemisphere. Hemispherectomy is usually performed for patients with intractable unilateral EPILEPSY due to malformations of cortical development or brain lesions. Depending on the epileptogenic area in the hemisphere, cortical removal can be total or partial.
Cortical malformations secondary to abnormal neuronal CELL MIGRATION in NEUROGENESIS. This group includes COBBLESTONE LISSENCEPHALY and PERIVENTRICULAR NODULAR HETEROTOPIA.
Epilepsy is defined as a disorder of brain function characterized by recurrent seizures that have a sudden onset. (Oxford Medical Dictionary). A seizure is caused by a sudden burst of excess electrical activity in the brain, causing a tempora...
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...