A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of human genetics"
DOI: 10.1038/s10038-021-00947-5
Abstract: Heterotopia is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms of heterotopia vary in severity of intellectual disability and may be associated with epileptic disorders. Abnormal neuronal migration… read more here.
Keywords: ribbon like; like subcortical; heterotopia; missense variant ... See more keywords
Placeless places: resolving the paradox of Foucault's heterotopia
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DOI: 10.1080/0950236x.2016.1156151
Abstract: ABSTRACT This article looks to restore Michel Foucault's concept of the heterotopia to its literary origins, and to thereby resolve the paradox that exists between Foucault's various definitions of the term. Described by Foucault as… read more here.
Keywords: heterotopia; placeless places; foucault; places resolving ... See more keywords
Unilateral Anophthalmia and Congenital Frontal Cranioschisis Associated with Extradural Neuroglial Heterotopia: new Insights into a Possible New Malformative Spectrum
Sign Up to like & getrecommendations! Published in 2022 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2022.2086330
Abstract: Abstract Background: Neuroglial heterotopia, characterized by mature neuroglial tissue outside the central nervous system, has not been previously associated with cranioschisis. Case Report: A 4-year-old female patient, with left congenital anophthalmia, had a nasofrontal neuroglial… read more here.
Keywords: unilateral anophthalmia; neuroglial heterotopia; heterotopia; anophthalmia congenital ... See more keywords
Heterotopic Nodules in the Placenta, an Immunohistochemical Re-evaluation of the Diagnosis of Adrenocortical Heterotopia
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric and Developmental Pathology"
DOI: 10.1177/1093526620953361
Abstract: Background Rare nodules of heterotopic adrenocortical and hepatic tissue are reported in the placenta. A mechanism for adrenocortical tissue in the placenta has been perplexing, while hepatic tissue is generally considered related to yolk sac… read more here.
Keywords: nodules placenta; placenta immunohistochemical; heterotopia; adrenocortical heterotopia ... See more keywords
Molecular Layer Heterotopia: Harmless Brain Warts or Ictal Main Force?
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsy Currents"
DOI: 10.1177/15357597221101263
Abstract: Original Article Citation Li, A. M., Hill, R. A. & Grutzendler, J. Intravital Imaging of Neocortical Heterotopia Reveals Aberrant Axonal Pathfinding and Myelination around Ectopic Neurons. Cereb Cortex 31, 4340-4356 (2021). doi:10.1093/cercor/bhab090. Neocortical heterotopia consist… read more here.
Keywords: layer heterotopia; brain; molecular layer; heterotopia harmless ... See more keywords
A Rare Cause of Refractory Epilepsy: Posterior Periventricular Nodular Heterotopia
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Neurosciences"
DOI: 10.4103/jpn.jpn_178_17
Abstract: A 15-year-old male patient presented to our outpatient clinic with drug-resistant seizures. Magnetic resonance imaging of the brain showed bilateral posterior nodular heterotopia and left cerebellar dysgenesis. The patient was diagnosed with cortical developmental malformation… read more here.
Keywords: refractory epilepsy; periventricular nodular; heterotopia; nodular heterotopia ... See more keywords