Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review

• Main Authors: Sijing Ren (Author), Yu Kong (Author), Ruihan Liu (Author), Qiubo Li (Author), Xuehua Shen (Author), Qing-Xia Kong (Author)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2024-05-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Tubulin plays an essential role in cortical development, and TUBA1A encodes a major neuronal α-tubulin. Neonatal mutations in TUBA1A are associated with severe brain malformations, and approximately 70% of patients with reported cases of TUBA1A mutations exhibit lissencephaly. We report the case of...