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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.
Also Known As:
Cobblestone Dysplasias; Cobblestone Lissencephalies; Dysplasia, Cobblestone; Dysplasias, Cobblestone; Lissencephalies, Cobblestone; Lissencephaly, Cobblestone; Cobblestone Complex; Cobblestone Dysplasia; Lissencephaly Type 2
Networked: 16 relevant articles (0 outcomes, 0 trials/studies) for this Disease, Comments

Disease Context: Research Results

Related Diseases

1. Walker-Warburg Syndrome
2. Malformations of Cortical Development
3. Classical Lissencephalies and Subcortical Band Heterotopias
4. Lissencephaly
5. Scoliosis

Experts

1. Zaki, Maha S: 1 article (04/2014)
2. Schaffer, Ashleigh E: 1 article (04/2014)
3. Rosti, Rasim O: 1 article (04/2014)
4. Ismail, Samira: 1 article (04/2014)
5. Gleeson, Joseph G: 1 article (04/2014)
6. Yatsenko, Andriy S: 1 article (01/2014)
7. Shcherbata, Halyna R: 1 article (01/2014)
8. Marrone, April K: 1 article (01/2014)
9. Yee, Kathleen T: 1 article (03/2013)
10. Radner, Stephanie: 1 article (03/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cobblestone Lissencephaly:
1. Dystroglycans (Dystroglycan)IBA
2. Laminin (Merosin)IBA
3. MicroRNAs (MicroRNA)IBA
4. GTP Phosphohydrolases (GTPases)IBA
5. Retinaldehyde (Retinal)IBA
6. Glycoproteins (Glycoprotein)IBA
7. Creatine Kinase (Creatine Phosphokinase)IBA
8. Schinzel-Giedion syndromeIBA
02/01/2013 - "Cobblestone lissencephaly in Schinzel-Giedion syndrome."
Order ALL the reference details at left...
9. protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
02/01/2012 - "The least severe, cobblestone lissencephaly C, was linked to POMGNT1 mutations (18%). "
Order ALL the reference details at left...
10. integrin-linked kinaseIBA

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