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References in periodicals archive ?
Whereas loss of these gene interactions leads to delay in mitosis and cell death of neural progenitor cells (NPCs) which may cause of human primary microcephaly.15 Mutations in WDR62 have been associated with primary microcephaly 2 (MCPH2), with or without cortical malformations.14,16,17 This is a disease characterized by microcephaly associated with other manifestation and showing a wide phenotypic variability.18 Associated features include modest to severe mental retardation, and numerous type of cortical malformations in patients with primary microcephaly.
Cortical malformations may include cortical thickening, pachygyria lissencephaly, microgyria, schizencephalyhypoplasia of the corpus callosum.
However, despite the absence of microcephaly at birth, the 13 infants in this report with laboratory evidence of Zika virus infection had brain abnormalities associated with congenital Zika syndrome, including ventriculomegaly and decreased brain volume, cortical malformations and subcortical calcifications, underscoring the importance of neuroimaging in evaluating these infants.
It is known that high dose vigabatrin is more effective in WS cases related with tuberosclerosis and cortical malformations (28,29).
Flexor spasms have long been considered as the most characteristic type of seizure constituting 42% of the cases while mixed flexor extensor spasms form 50% of all cases.9 The etiology is highly varied and includes neurocutaneous syndromes, metabolic disorders, cortical malformations, perinatal brain injuries, postnatal infections and head trauma.
The main causes of epilepsy in children are cortical malformations (hemimegalencephaly, cortical dysplasia, lissencephaly, etc.) and phakomatoses (Tuberous sclerosis, Sturge-Weber disease, neurofibromatosis type 1, etc.), perinatal ischaemia, infections, mesial temporal sclerosis, metabolic diseases and tumours.
These abnormalities included ventriculomegaly, subcortical calcifications, cortical malformations, and decreased brain volume.
New chapters are included on epileptic channelopathies, epiloptogenic cerebral cortical malformations, age-related syndromes, AED selection, fetal effects of epilepsy and of AEDs.
MRI abnormalities include cortical malformations such as heterotopia, hemimegalencephaly, focal cortical dysplasia, callosal dysgenesis as well as cortical atrophy, and periventricular/white matter lesions.
Seizure etiology included focal cortical dysplasia (2), other cortical malformations (3), hydrocephalus (1), febrile infection-related epilepsy syndrome (2), and Rett syndrome (1).
Among the latter section, chapters are included on cortical malformations, chromosomal abnormalities, autism, and brain tumors.
The MR examination revealed pathological findings in 65 out of 100 patients (65%) which includes, cerebral infarct with gliosis (16%); infective granuloma (17%); atrophy (1%); gliomas (9%); cortical malformations (2%); meningioma (3%); other miscellaneous causes (17%).