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Total 442 results found since Jan 2013.
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy
Eur J Med Genet. 2022 Sep 16:104622. doi: 10.1016/j.ejmg.2022.104622. Online ahead of print.ABSTRACTKIF5C encodes a protein belonging to the kinesin family and involved in cellular transport. Variants in KIF5C were first associated a decade ago with microcephaly and malformations of cortical development, with a phenotypic spectrum ranging from polymicrogyria to pachygyria. Currently, eight patients have been reported so far. Here we describe a new paediatric patient carrying the recurrent p.(Glu237Lys) KIF5C variant associated with a distinctive neuroradiological pattern of abnormal posterior course of the corticospinal tr...
Source: European Journal of Medical Genetics - September 19, 2022 Category: Genetics & Stem Cells Authors: Alessandro Naim Andrea Accogli Elisabetta Amadori Gianluca D'Onofrio Francesca Madia Domenico Tortora Federico Zara Pasquale Striano Vincenzo Salpietro Mariasavina Severino Source Type: research
The genetic landscape of polymicrogyria
Jesmy James, Mary Iype, Mithran Omana Surendran, Ayyappan Anitha, Sanjeev V ThomasAnnals of Indian Academy of Neurology 2022 25(4):616-626
Polymicrogyria (PMG) is a relatively common complex malformation with cortical development, characterized by an exorbitant number of abnormally tiny gyri separated by shallow sulci. It is a neuronal migration disorder. Familial cases of PMG and the manifestation of PMG in patients with chromosomal aberrations and mutations indicate their important role of genetics in this disorder. The highly stereotyped and well-conserved nature of the cortical folding pattern in humans is suggestive ...
Source: Annals of Indian Academy of Neurology - September 9, 2022 Category: Neurology Authors: Jesmy James Mary Iype Mithran Omana Surendran Ayyappan Anitha Sanjeev V Thomas Source Type: research
Reactive plasticity and synaptogenesis might correlate lesion size, leading to differences in epilepsy development in malformations of the polymicrogyria spectrum.
Schizencephaly is a severe malformation of the polymicrogyria spectrum that presents several anatomical particularities between patients, such as open or closed lips into the ventricles, different cleft size, bilaterality or unilaterality and location. Although correlated with epilepsy since its description in 1946, the contribution of such anatomical differences to its development and severity was unclear until the work of Kim et, al [1]. Analysing adult epileptic patients diagnosed with schizencephaly, they have elegantly shown that epilepsy severity is directly correlated to the volume of clefts and presence of open lips.
Source: Seizure: European Journal of Epilepsy - September 6, 2022 Category: Neurology Authors: Luiza dos Santos Heringer, Henrique Rocha Mendon ça Tags: Letter to the editor Source Type: research
Imaging of Congenital Malformations of the Brain
Brain formation is a continuous and complicated process that is historically categorized by the timing of development. The earliest disorders of dorsal induction occur in the first month of gestation and include anencephaly and cephalocele. Disorders of ventral induction occur during the second month of gestation and include the holoprosencephaly and septo-optic dysplasia spectrums. The third and longest timeframe include the disorders of neuronal migration and proliferation (gestational weeks eight-25) and include malformations of cortical development: lissencephaly, polymicrogyria, schizencephaly, gray matter heterotopia...
Source: Clinics in Perinatology - August 22, 2022 Category: Perinatology & Neonatology Authors: Laura Z. Fenton Source Type: research
Motor organization of unilateral polymicrogyria associated with ipsilateral brainstem atrophy – a case report
Polymicrogyria refers to the disruption of normal cerebral cortical development late in neuronal migration or in early cortical organization. Although patients with polymicrogyria feature relatively favorable ...
Source: BMC Neurology - August 18, 2022 Category: Neurology Authors: Choong-Hee Roh, Da-Sol Kim, Gi-Wook Kim, Yu Hui Won, Myoung-Hwan Ko, Jeoung-Hwan Seo and Sung-Hee Park Tags: Case report Source Type: research
De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity
Eur J Med Genet. 2022 Jul 30:104577. doi: 10.1016/j.ejmg.2022.104577. Online ahead of print.ABSTRACTOBJECTIVE: Although the number of affected individuals is relatively low, pathogenic SCN3A variants have been reported in a range of phenotypes, from focal epilepsy to severe developmental and epileptic encephalopathy with polymicrogyria.METHODS: Case report and inclusion of current literature.RESULTS: Here, we report a normally developed boy with self-limiting generalized epilepsy with fever sensitivity due to a likely pathogenic SCN3A variant. He had febrile seizures from the age one year, which were successfully treated w...
Source: European Journal of Medical Genetics - August 2, 2022 Category: Genetics & Stem Cells Authors: Katrine M Johannesen Elena Gardella Philip K Ahring Rikke S M øller Source Type: research
Epileptic encephalopathy with electrical status epilepticus during slow sleep: evaluation of treatment response from a tertiary center
CONCLUSIONS: ESES is an epileptic encephalopathy that can be treated safely with antiseizure medications. Neurocognitive examinations and follow-up of EEG findings are valuable in terms of the treatment response. Benzodiazepines were found to be very effective in additional treatment.PMID:35611419 | DOI:10.24953/turkjped.2020.2558
Source: The Turkish Journal of Pediatrics - May 25, 2022 Category: Pediatrics Authors: Bet ül Kılıç Mecit Acar Yasemin Top çu G üzide Turanlı Source Type: research
