Characteristic Imaging Feature of Cortical Dysgenesis in Tubulinopathy.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 39662624.
- Also identified by DOI 10.1016/j.wneu.2024.12.019.
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Abstract
Tubulin-related cortical dysgenesis or tubulinopathies include a wide range of brain cortical malformations that result from defects in genes responsible for the tubulin protein. Tubulin is an integral part of the cell cytoskeleton, and the development of the central nervous system depends on it. We present a case with characteristic imaging features that suggested tubulinopathy.
Medical subject headings
- Malformations of Cortical Development
- Tubulin