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
Nervous System Malformations
Pragmatic Clinical Trials as Topic
Genome
Genome, Human
Sequence Analysis, DNA
Sex Chromosome Aberrations
1-Alkyl-2-acetylglycerophosphocholine Esterase
A lipoprotein-associated PHOSPHOLIPASE A2 which modulates the action of PLATELET ACTIVATING FACTOR by hydrolyzing the SN-2 ester bond to yield the biologically inactive lyso-platelet-activating factor. It has specificity for phospholipid substrates with short-chain residues at the SN-2 position, but inactive against long-chain phospholipids. Deficiency in this enzyme is associated with many diseases including ASTHMA, and HYPERCHOLESTEROLEMIA.
Peptides
Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Amino Acid Sequence
Peptide Fragments
Cloning, Molecular
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?
Lissencephaly | Radiology Case | Radiopaedia.org
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Miller-Dieker syndrome
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Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence...
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Neuronal Migration Disorder
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Lissencephaly due to TUBA1A Mutation (Lissencephaly Type 3): Symptoms, Diagnosis and Treatment - Symptoma
Gray matter heterotopia
Lissencephaly | Definition of Lissencephaly by Merriam-Webster
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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 ...
Periventricular Nodular Heterotopia
Summary Report | CureHunter
Periventricular Nodular Heterotopia: A disorder resulting from a defect in the pattern of neuronal migration in which ectopic ... Classical Lissencephalies and Subcortical Band Heterotopias Experts. 1. Battaglia, Giorgio: 6 articles (09/2006 - 01/2002) ... subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), ... including periventricular nodular heterotopia, subcortical band heterotopia and lissencephaly. ". ...
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX(XLIS) or LIS1<...
Classical Lissencephalies and Subcortical Band Heterotopias Medicine & Life Sciences * Missense Mutation Medicine & Life ... Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX(XLIS) or LIS1. / Pilz, Daniela T ... Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX(XLIS) or LIS1. Human molecular ... title = "Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX(XLIS) or LIS1", ...
Pachygyria - Wikipedia
... 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 ...
Diffuse malformations of cortical development<...
Classical Lissencephalies and Subcortical Band Heterotopias Medicine & Life Sciences 39% * Periventricular Nodular Heterotopia ... Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of ... Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of ... Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of ...
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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, ...
SelfDecode | Genome Analysis
Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence...
Classical Lissencephalies and Subcortical Band Heterotopias 100% * Genes 24% * Lissencephaly and agenesis of corpus callosum 17 ... Dive into the research topics of Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia ... Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence ...
The location of DCX mutations predicts malformation severity in X-linked lissencephaly - PubMed
... is one of the most severe neuronal migration disorders that ranges from agyria/pachygyria to subcortical band heterotopia. ... Classical Lissencephalies and Subcortical Band Heterotopias / genetics* Actions. * Search in PubMed * Search in MeSH ... is one of the most severe neuronal migration disorders that ranges from agyria/pachygyria to subcortical band heterotopia. ... Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. Mokánszki A, Körhegyi I, Szabó N, Bereg E, ...
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity - PubMed
Classical Lissencephalies and Subcortical Band Heterotopias / classification Actions. * Search in PubMed * Search in MeSH ... A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly ... Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Cardoso C, Leventer RJ, Dowling ...
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1) - Fingerprint
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Classical Lissencephalies and Subcortical Band Heterotopias 54% * Mutation 37% * Missense Mutation 34% ... Dive into the research topics of Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1 ... Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). ...
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Classical Lissencephalies and Subcortical Band Heterotopias , Diagnosis , Female , Fetal Diseases , Diagnosis , Fetus , Gray ... Autopsy , Base Sequence , Cause of Death , Child , Child Abuse , Classical Lissencephalies and Subcortical Band Heterotopias , ... Child , Classical Lissencephalies and Subcortical Band Heterotopias , Craniofacial Abnormalities , Epilepsy , Female , ... Classical Lissencephalies and Subcortical Band Heterotopias , Female , Humans , Infant , Intellectual Disability , ...
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Search Articles | University of Toronto Libraries
Classical Lissencephalies and Subcortical Band Heterotopias - physiopathology , Classical Lissencephalies and Subcortical Band ... SUBCORTICAL BAND HETEROTOPIA , DCX GENE , Classical Lissencephalies and Subcortical Band Heterotopias - genetics , Genetic ... band heterotopia (86) 86 Filter by. Remove filter. classical lissencephalies and subcortical band heterotopias - genetics (86) ... Classical Lissencephalies and Subcortical Band Heterotopias - pathology , Child , Amino acids , Original ...
Peptides and Proteins: Novus Biologicals
LIS1 Peptides and Proteins: Novus Biologicals
Lissencephaly
Summary Report | CureHunter
Classical Lissencephalies and Subcortical Band Heterotopias: 101. *Cobblestone Lissencephaly: 18. *Macrogyria: 17 ... result in lissencephaly in males or subcortical laminar heterotopia (double cortex) in females. ". 07/01/2000 - "Two familial X ... cortical heterotopia, and double cortex. ". 09/01/1998 - "lissencephaly, double cortex).". 01/01/2003 - "Mutations in the X- ... cortical heterotopias, colpocephaly, and hypoplasia of the cerebellar vermis. ". 01/01/1982 - "Their anomaly is characterized ...
Lesch-Nyhan Syndrome | Profiles RNS
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
Malformations of cortical development and epilepsy<...
Classical Lissencephalies and Subcortical Band Heterotopias Medicine & Life Sciences * Polymicrogyria Medicine & Life Sciences ... subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented. ... subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented.", ... subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented. ...
Lissencephaly11
- Subcortical band heterotopia (SBH) are bilateral and symmetric ribbons of gray matter found in the central white matter between the cortex and the ventricular surface, which comprises the less severe end of the lissencephaly (agyria-pachygyria-band) spectrum of malformations. (elsevier.com)
- Should neurons follow an abnormal migration during development possible cortical malformations include classical lissencephaly (as stated above) and subcortical band heterotopia with an agyria-pachygyria band spectrum. (wikipedia.org)
- Below, the mutations of LIS1 or DCX genes are discussed as they are most commonly linked to neuronal migration disorders including lissencephaly-pachygyria and subcortical band heterotopia. (wikipedia.org)
- Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. (elsevier.com)
- 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)
- Lissencephaly spectrum (LIS) is one of the most severe neuronal migration disorders that ranges from agyria/pachygyria to subcortical band heterotopia. (cdc.gov)
- Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia ('double cortex' syndrome) in females and lissencephaly ('smooth brain' syndrome) in males. (nih.gov)
- To estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia. (mendelian.org)
- two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. (malacards.org)
- in classical lissencephaly (or type i), the cortex appears thickened, with four more or less disorganised layers rather than six normal layers. (malacards.org)
- in the variants of classical lissencephaly, extra-cortical anomalies are also present (total or subtotal agenesis of the corpus callosum and/or cerebellar hypoplasia). (malacards.org)
Periventricular nodular heterotopia1
- Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families.X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. (elsevier.com)
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)
Pachygyria2
- Patients with subcortical band heterotopia (another disorder associated with pachygyria) typically have milder symptoms and their cognitive function is closely linked to the thickness of the subcortical band and the degree of pachygyria present. (wikipedia.org)
- The majority of unsolved patients had posterior pachygyria, subcortical band heterotopia, or mild frontal pachygyria. (mendelian.org)
Mutations1
- Ledbetter, David H. / Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX(XLIS) or LIS1 . (elsevier.com)
Posterior1
- A neonate presented hypotonia, increased serum creatine kinase levels, and polymicrogyria and subcortical heterotopia on brain MRI involving both posterior temporal and occipital lobes. (bvsalud.org)
Diagnosis1
- To investigate the prenatal ultrasonic manifestations of fetal gray matter heterotopias (FGMH) and evaluate the optimal method its prenatal diagnosis. (bvsalud.org)
Severe1
- in addition to these four entities, isolated lissencephalies without a known genetic defect, lissencephalies with severe microcephaly (microlissencephaly) and lissencephalies associated with polymalformative syndromes are also included in the group of classical lissencephalies. (malacards.org)