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Cobblestone Lissencephaly Summary

8 relevant articles (0 outcomes, 0 trials/studies) found for this Disease

Description: 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 Show All >>

Key Drugs and Agents for Cobblestone Lissencephaly

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Dystroglycans (Dystroglycan) : 2 results : IBA
  2. Laminin (Merosin) : 2 results : IBA
  3. Retinaldehyde (Retinal) : 1 result : IBA
  4. Glycoproteins (Glycoprotein) : 1 result : IBA
  5. integrin-linked kinase : 1 result : IBA
  6. Triad : 1 result : FDA 1
  7. tranilast (N 5') : 1 result : IBA

Diseases Related to Cobblestone Lissencephaly

  1. Malformations of Cortical Development
  2. Syndrome
  3. Muscular Dystrophies (Muscular Dystrophy)
  4. Eye Abnormalities (Eye Abnormality)
  5. Lissencephaly
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Key Therapies for Cobblestone Lissencephaly

Efficacy Chart >>

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