Classical Lissencephalies and Subcortical Band Heterotopias
42
relevant articles (1 outcomes,
1 trials/studies)
found for this Disease
Description:
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.)
Also Known As:
Agyria-Pachygyria-Band Spectrum; Double Cortex Syndrome; Isolated Lissencephaly Sequence; Lissencephaly Syndrome, Miller-Dieker; Lissencephaly, Miller-Dieker; Subcortical Laminar Heterotopia; Type 1 Lissencephaly; X-Linked Lissencephaly; Agyria Pachygyria Band Spectrum; Band Heterotopia, Lissencephaly-Subcortical; Classical Lissencephalies; Classical Lissencephaly; Heterotopia, Lissencephaly-Subcortical Band; Heterotopia, Subcortical Laminar; Heterotopias, Lissencephaly-Subcortical Band; Heterotopias, Subcortical Band; Heterotopias, Subcortical Laminar; Lissencephalies, Type 1; Lissencephalies, X-Linked; Lissencephaly Subcortical Band Heterotopia; Lissencephaly Syndrome, Miller Dieker; Lissencephaly, Classical; Lissencephaly, Miller Dieker; Lissencephaly, X Linked; Lissencephaly-Subcortical Band Heterotopias; Miller Dieker Syndrome; Miller-Dieker Lissencephaly; Miller-Dieker Lissencephaly Syndrome; Subcortical Band Heterotopias; Syndrome, Double Cortex; Syndrome, Miller-Dieker; Syndrome, Miller-Dieker Lissencephaly; Type 1 Lissencephalies; X Linked Lissencephaly; X-Linked Lissencephalies; Heterotopia, Subcortical Band; Lissencephalies, Classical; Lissencephaly, Type 1; Lissencephaly, X-Linked; Lissencephaly-Subcortical Band Heterotopia; Miller-Dieker Syndrome; Subcortical Band Heterotopia
Relationship Network
Disease Context: Research Results
Related Diseases
Experts
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Classical Lissencephalies and Subcortical Band Heterotopias:
| 1. | lamotrigine (Lamictal)FDA LinkGeneric
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| 2. | Nonsense Codon (Nonsense Mutation)IBA
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| 3. | Platelet Activating FactorIBA
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| 4. | Genetic Markers (Genetic Marker)IBA
07/01/1994
- " DNA markers YNZ22.1 and YNH37.3 were studied by Southern blotting in 14 patients with typical (11 cases) and atypical (3 cases) type 1 Lissencephaly, all with normal high resolution karyotype" 08/01/1991
- " DNA markers YNZ22.1, YNH37.3, 144D6 and VAW508 were studied in a patient with the isolated lissencephaly sequence (ILS)" 09/01/1991
- " DNA markers YNZ22.1, YNH37.3, 144D6, and VAW508 were studied in five patients with the Miller-Dieker syndrome, 17 patients with the isolated lissencephaly sequence, one patient with a non-classified lissencephaly, and nine patients with an atypical cortical dysplasia"
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| 5. | 1-Alkyl-2-acetylglycerophosphocholine Esterase (PAF Acetylhydrolase)IBA
12/29/1995
- " Its gamma-subunit (which, formerly, we called the 29-kDa subunit) acts as a catalytic subunit, whereas the alpha-subunit (45 kDa) is the bovine homolog of the product of human LIS-1, the causative gene of Miller-Dieker lissencephaly, indicating that this intracellular PAF acetylhydrolase plays a key role in brain development" 11/01/1997
- " Although the mutation of several genes, including cyclin-dependent kinase 5 (Cdk 5), p35 and LIS1, 45 kDa subunits of platelet-activating factor acetylhydrolase (PAF-AH) Ib, in Miller-Dieker lissencephaly syndrome (MDS) has been reported to cause abnormal laminar structure in the brain, no abnormality was found in yotari by Western blotting with antibodies (Ab's) against these molecules"
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| 6. | Complementary DNA (cDNA)IBA
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| 7. | Staphylococcal Protein A (A, Protein)IBA
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| 8. | Dynein ATPase (Dynein)IBA
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| 9. | DNA (Deoxyribonucleic Acid)IBA
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| 10. | Carbon MonoxideIBA
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| 34 Drugs and Important Bio-Agents
and
42
more articles analyzed in the Research Interface, order at left...
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Therapies and Procedures
| 1. | Anesthesia
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| 1 Therapies and Procedures
and
1
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