Classical Lissencephalies and Subcortical Band Heterotopias
Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)
Lissencephaly
A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
Neuronal Migration Disorders
Cobblestone Lissencephaly
The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.
Neuropeptides
Periventricular Nodular Heterotopia
The structure of the coiled-coil domain of Ndel1 and the basis of its interaction with Lis1, the causal protein of Miller-Dieker lissencephaly. (1/12)
Ndel1 and Nde1 are homologous and evolutionarily conserved proteins, with critical roles in cell division, neuronal migration, and other physiological phenomena. These functions are dependent on their interactions with the retrograde microtubule motor dynein and with its regulator Lis1--a product of the causal gene for isolated lissencephaly sequence (ILS) and Miller-Dieker lissencephaly. The molecular basis of the interactions of Ndel1 and Nde1 with Lis1 is not known. Here, we present a crystallographic study of two fragments of the coiled-coil domain of Ndel1, one of which reveals contiguous high-quality electron density for residues 10-166, the longest such structure reported by X-ray diffraction at high resolution. Together with complementary solution studies, our structures reveal how the Ndel1 coiled coil forms a stable parallel homodimer and suggest mechanisms by which the Lis1-interacting domain can be regulated to maintain a conformation in which two supercoiled alpha helices cooperatively bind to a Lis1 homodimer. (+info)Characterization of the HeCo mutant mouse: a new model of subcortical band heterotopia associated with seizures and behavioral deficits. (2/12)
(+info)Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. (3/12)
(+info)Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization. (4/12)
(+info)Independent component analysis reveals dynamic ictal BOLD responses in EEG-fMRI data from focal epilepsy patients. (5/12)
(+info)Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. (6/12)
(+info)Disturbances in the positioning, proliferation and apoptosis of neural progenitors contribute to subcortical band heterotopia formation. (7/12)
(+info)Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3. (8/12)
(+info)
Subcortical band heterotopia: MedlinePlus Genetics
What is Lissencephaly?
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Miller-Dieker syndrome
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Face hitting steering wheel. Have seizure like spells, not able to focus. MRI shows heterotopia. Can these be treated with...
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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative...
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Pachygyria
... mixed pachygyria and subcortical band heterotopia Grade 6: subcortical band heterotopia alone Gradient 'a': from posterior to ... Classical lissencephaly can range from agyria to regional pachygyria and is usually present along with subcortical band ... types are associated with corpus callosum agenesis or cerebellar hypoplasia while the cobblestone lissencephalies are ... and subcortical band heterotopia with an agyria-pachygyria band spectrum. Normal neuronal migration involves the development of ...
Classical Lissencephalies and Subcortical Band Heterotopias | Profiles RNS
Classical Lissencephalies and Subcortical Band Heterotopias*Classical Lissencephalies and Subcortical Band Heterotopias ... "Classical Lissencephalies and Subcortical Band Heterotopias" by people in this website by year, and whether "Classical ... Classical Lissencephalies and Subcortical Band Heterotopias [C16.131.666.507.450.499.230]. *Genetic Diseases, Inborn [C16.320] ... Classical Lissencephalies and Subcortical Band Heterotopias [C16.131.666.507.450.230]. *Lissencephaly [C16.131.666.507.450.499] ...
Takeshi Koriyama's Research
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NEW (2008) DeCS DESCRIPTORS WITH SCOPE NOTES (UNIT RECORD FORMAT; 21/02/2008
2005 Dec 27;65(12):1873-87.) HN - 2008 BX - Heterotopia, Subcortical Band BX - Lissencephalies, Classical BX - Lissencephaly, ... Lissencephaly-Subcortical Band Heterotopia BX - Miller-Dieker Syndrome BX - Subcortical Band Heterotopia MH - Cobblestone ... Classical Lissencephalies and Subcortical Band Heterotopias UI - D054221 MN - C10.500.507.249.230 MN - C10.500.507.750.230 MN ... Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for ...
Marwan Shinawi - Research output
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DeCS
Classical Lissencephalies and Subcortical Band Heterotopias [C10.500.507.450.230] Classical Lissencephalies and Subcortical ... Heterotopias, Subcortical Band Heterotopias, Subcortical Laminar Subcortical Band Heterotopias Subcortical Laminar Heterotopia ... Subcortical Band Heterotopia. Subcortical Band Heterotopias. Subcortical Laminar Heterotopia. Syndrome, Classical Lissencephaly ... Heterotopia, Lissencephaly-Subcortical Band. Heterotopia, Subcortical Band. Heterotopia, Subcortical Laminar. Heterotopias, ...
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3)...
Classical Lissencephalies and Subcortical Band Heterotopias Medicine & Life Sciences 72% * Filamins Medicine & Life Sciences 44 ... Magnetic resonance imaging of the brain showed periventricular nodular heterotopia overlaid by classical lissencephaly with ... Magnetic resonance imaging of the brain showed periventricular nodular heterotopia overlaid by classical lissencephaly with ... Magnetic resonance imaging of the brain showed periventricular nodular heterotopia overlaid by classical lissencephaly with ...
Somatic mutations in cerebral cortical malformations. | AHRO : Austin Health Research Online
Classical Lissencephalies and Subcortical Band Heterotopias.genetics. DNA Mutational Analysis.methods. Humans. Lissencephaly. ... subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), ... persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). Of the somatic mutations we ...
WDR62 Antibodies: Novus Biologicals
MESH TREE NUMBER CHANGES - 2015 MeSH
MESH TREE NUMBER CHANGES - 2015 MeSH
NEW (2008) DeCS DESCRIPTORS WITH SCOPE NOTES (UNIT RECORD FORMAT; 21/02/2008
2005 Dec 27;65(12):1873-87.) HN - 2008 BX - Heterotopia, Subcortical Band BX - Lissencephalies, Classical BX - Lissencephaly, ... Lissencephaly-Subcortical Band Heterotopia BX - Miller-Dieker Syndrome BX - Subcortical Band Heterotopia MH - Cobblestone ... Classical Lissencephalies and Subcortical Band Heterotopias UI - D054221 MN - C10.500.507.249.230 MN - C10.500.507.750.230 MN ... Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for ...
NEW (2008) DeCS DESCRIPTORS WITH SCOPE NOTES (UNIT RECORD FORMAT; 21/02/2008
2005 Dec 27;65(12):1873-87.) HN - 2008 BX - Heterotopia, Subcortical Band BX - Lissencephalies, Classical BX - Lissencephaly, ... Lissencephaly-Subcortical Band Heterotopia BX - Miller-Dieker Syndrome BX - Subcortical Band Heterotopia MH - Cobblestone ... Classical Lissencephalies and Subcortical Band Heterotopias UI - D054221 MN - C10.500.507.249.230 MN - C10.500.507.750.230 MN ... Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for ...
MESH TREE NUMBER CHANGES - 2015 MeSH
MESH TREE NUMBER CHANGES - 2015 MeSH
NEW (2008) DeCS DESCRIPTORS WITH SCOPE NOTES (UNIT RECORD FORMAT; 21/02/2008
2005 Dec 27;65(12):1873-87.) HN - 2008 BX - Heterotopia, Subcortical Band BX - Lissencephalies, Classical BX - Lissencephaly, ... Lissencephaly-Subcortical Band Heterotopia BX - Miller-Dieker Syndrome BX - Subcortical Band Heterotopia MH - Cobblestone ... Classical Lissencephalies and Subcortical Band Heterotopias UI - D054221 MN - C10.500.507.249.230 MN - C10.500.507.750.230 MN ... Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for ...
NEW (2008) DeCS DESCRIPTORS WITH SCOPE NOTES (UNIT RECORD FORMAT; 21/02/2008
2005 Dec 27;65(12):1873-87.) HN - 2008 BX - Heterotopia, Subcortical Band BX - Lissencephalies, Classical BX - Lissencephaly, ... Lissencephaly-Subcortical Band Heterotopia BX - Miller-Dieker Syndrome BX - Subcortical Band Heterotopia MH - Cobblestone ... Classical Lissencephalies and Subcortical Band Heterotopias UI - D054221 MN - C10.500.507.249.230 MN - C10.500.507.750.230 MN ... Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for ...
MESH TREE NUMBER CHANGES - 2015 MeSH
NEW (2008) DeCS DESCRIPTORS WITH SCOPE NOTES (UNIT RECORD FORMAT; 21/02/2008
2005 Dec 27;65(12):1873-87.) HN - 2008 BX - Heterotopia, Subcortical Band BX - Lissencephalies, Classical BX - Lissencephaly, ... Lissencephaly-Subcortical Band Heterotopia BX - Miller-Dieker Syndrome BX - Subcortical Band Heterotopia MH - Cobblestone ... Classical Lissencephalies and Subcortical Band Heterotopias UI - D054221 MN - C10.500.507.249.230 MN - C10.500.507.750.230 MN ... Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for ...
MESH TREE NUMBER CHANGES - 2015 MeSH
NEW (2008) DeCS DESCRIPTORS WITH SCOPE NOTES (UNIT RECORD FORMAT; 21/02/2008
2005 Dec 27;65(12):1873-87.) HN - 2008 BX - Heterotopia, Subcortical Band BX - Lissencephalies, Classical BX - Lissencephaly, ... Lissencephaly-Subcortical Band Heterotopia BX - Miller-Dieker Syndrome BX - Subcortical Band Heterotopia MH - Cobblestone ... Classical Lissencephalies and Subcortical Band Heterotopias UI - D054221 MN - C10.500.507.249.230 MN - C10.500.507.750.230 MN ... Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for ...
NEW (2008) DeCS DESCRIPTORS WITH SCOPE NOTES (UNIT RECORD FORMAT; 21/02/2008
2005 Dec 27;65(12):1873-87.) HN - 2008 BX - Heterotopia, Subcortical Band BX - Lissencephalies, Classical BX - Lissencephaly, ... Lissencephaly-Subcortical Band Heterotopia BX - Miller-Dieker Syndrome BX - Subcortical Band Heterotopia MH - Cobblestone ... Classical Lissencephalies and Subcortical Band Heterotopias UI - D054221 MN - C10.500.507.249.230 MN - C10.500.507.750.230 MN ... Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for ...
Malformations of cortical development: genetic mechanisms and diagnostic approach
3) Subcortical band heterotopia (group II.C). Subcortical band heterotopia is also referred to as "double cortex" syndrome, ... lissencephalies); (3) group II.C, localized abnormalities of transmantle migration (subcortical heterotopia); and (4) group II. ... 2) Classical (type I) lissencephaly (group II.B). Lissencephaly is one of the best-known malformations of cortical development ... Subcortical band heterotopia is known to be associated with mutations of the DCX gene33). The function of the DCX protein is to ...
Polymicrogyria: pathology, fetal origins and mechanisms | Acta Neuropathologica Communications | Full Text
Other mechanisms which may lead to PMG include premature folding of the neuronal band, abnormal fusion of adjacent gyri and ... Undulating band heterotopia; fetus of 23 weeks. a: A slice of the fixed brain shows large ventricle and a thin cortical mantle ... There was also subcortical heterotopia, transmantle dysplasia, and schizencephaly (Figure 10). The brain damage was the result ... Unlike classical lissencephaly, in the cobblestone malformation the brainstem and cerebellar cortex, which depend on migration ...
Early detection and evolution of hypsarrhythmia in a patient with subcortical band heterotopia - PubMed
Early detection and evolution of hypsarrhythmia in a patient with subcortical band heterotopia ... Classical Lissencephalies and Subcortical Band Heterotopias* Actions. * Search in PubMed * Search in MeSH ... Early detection and evolution of hypsarrhythmia in a patient with subcortical band heterotopia Roohi Katyal 1 2 , Bahareh ... Early detection and evolution of hypsarrhythmia in a patient with subcortical band heterotopia Roohi Katyal et al. Epileptic ...
Emergence of non-canonical parvalbumin-containing interneurons in hippocampus of a murine model of type I lissencephaly - PubMed
DeCS
Classical Lissencephalies and Subcortical Band Heterotopias [C10.500.507.450.230] Classical Lissencephalies and Subcortical ... Heterotopias, Subcortical Band Heterotopias, Subcortical Laminar Subcortical Band Heterotopias Subcortical Laminar Heterotopia ... Subcortical Band Heterotopia. Subcortical Band Heterotopias. Subcortical Laminar Heterotopia. Syndrome, Classical Lissencephaly ... Heterotopia, Lissencephaly-Subcortical Band. Heterotopia, Subcortical Band. Heterotopia, Subcortical Laminar. Heterotopias, ...
MeSH Browser
MeSH Browser
Classical Lissencephalies and Subcortical Band Heterotopias Preferred Term Term UI T684521. Date10/24/2006. LexicalTag NON. ... Subcortical Band Heterotopia Narrower Concept UI. M0501378. Terms. Subcortical Band Heterotopia Preferred Term Term UI T680780 ... Classical Lissencephalies and Subcortical Band Heterotopias Preferred Concept UI. M0501375. Scope Note. Disorders comprising a ... Classical Lissencephalies and Subcortical Band Heterotopias. Tree Number(s). C10.500.507.450.230. C10.500.507.450.499.230. ...
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Periventricular Nodular Heterotopia5
- Periventricular nodular heterotopia and Miller-Dieker syndrome are two different disorders of brain development. (elsevier.com)
- Periventricular nodular heterotopia is characterized by aggregates of grey matter adjacent to the lateral ventricle and is mainly linked to mutations in the Filamin A (FLNA) gene. (elsevier.com)
- Magnetic resonance imaging of the brain showed periventricular nodular heterotopia overlaid by classical lissencephaly with complete agyria. (elsevier.com)
- Our observation extends the list of the overlying cortical malformations associated with periventricular nodular heterotopia. (elsevier.com)
- Mutations were somatic in 8 of the 27 (30%), predominantly in persons with the double-cortex syndrome (in whom we found mutations in DCX and LIS1), persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). (austin.org.au)
Laminar1
- Other mechanisms which may lead to PMG include premature folding of the neuronal band, abnormal fusion of adjacent gyri and laminar necrosis of the developing cortex. (biomedcentral.com)
Syndrome1
- Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene (LIS1). (elsevier.com)
Descriptor1
- Classical Lissencephalies and Subcortical Band Heterotopias" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
Type1
- Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (rush.edu)
Lissencephaly1
- Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (bvsalud.org)