Degree of Cajal-Retzius cell mislocalisation correlates with the severity of structural brain defects in mouse models of dystroglycanopathy [PDF]
, 2016 The secondary dystroglycanopathies are characterized by the hypoglycosylation of alpha dystroglycan, and are associated with mutations in at least 18 genes that act on the glycosylation of this cell surface receptor rather than the Dag1 gene itself.
Booler, H +3 more
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Бюллетень сибирской медицины, 2018 Brain malformations are one of the most frequent causes of epilepsy in childhood. In patients with malformations of the brain epilepsy is diagnosed in 75–80% of cases.
V. I. Guzeva +5 more
doaj +1 more source
What do parents of children with dysphagia think about their MDT? A qualitative study [PDF]
, 2014 Objectives: To seek the experiences and perspectives of parents caring for children with dysphagia, with emphasis on their experiences of working within their child’s multidisciplinary team (MDT) Setting: This research was completed in community settings,
Hanson, B, Smith, CH
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Lennox-Gastaut Syndrome: A State of the Art Review. [PDF]
, 2017 Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting ...
Mastrangelo, Mario
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Infantile spasms and developmental delay: A case of miller–Dieker syndrome
Indian Pediatrics Case Reports, 2023 Background: Miller–Dieker syndrome (MDS) is a rare genetic disorder, due to contiguous gene deletion on chromosome 17p13.3, characterized by classical type I lissencephaly, severe developmental delay, seizures, cardiac defects, and dysmorphisms.
Jewel Maria George +3 more
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Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration [PDF]
, 2007 Type I lissencephaly, a genetic disease characterized by disorganized cortical layers and gyral abnormalities, is associated with severe cognitive impairment and epilepsy.
Antypa, M +5 more
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Rab-mediated vesicular transport is required for neuronal positioning in the developing Drosophila visual system [PDF]
, 2010 Background The establishment of tissue architecture in the nervous system requires the proper migration and positioning of newly born neurons during embryonic development.
Tarek Houalla +3 more
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Molecular genetics of intellectual disability [PDF]
, 2012 The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including ...
Bessa, C., Lopes, Fátima, Maciel, P.
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Nonprimary Cytomegalovirus Fetal Infection [PDF]
Revista Brasileira de Ginecologia e Obstetrícia, 2016 Cytomegalovirus (CMV) is the most common congenital viral infection, causing hearing, visual and psychomotor impairment. Preexisting maternal CMV immunity substantially reduces, but not eliminates, the risk of fetal infection and affectation.
Sofia Rodrigues +3 more
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The cell adhesion molecule Neuroglian regulates Lissencephaly-1 localisation in circulating immunosurveillance cells [PDF]
, 2009 Background When the parasitoid wasp Leptopilina boulardi lays its eggs in Drosophila larvae phagocytic cells called plasmatocytes and specialized cells known as lamellocytes encapsulate the egg.
Williams Michael J
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