关键词: 大脑皮层发育不良；　TUBA1A基因；　临床特点；　儿童

Abstract: Objective　To explore the clinical and genetic characteristics of malformations of cortical development (MCD) caused by TUBA1A gene mutation. Methods　The clinical data of MCD in 2 children diagnosed by molecular detection were analyzed retrospectively, and the relative literature was reviewed to summarize the clinical characteristics of patients with the same genotype. Results　Both patients visited for intermittent convulsions. Patient 1 was a 1-year- 3-month-old boy. His manifestations were eyes staring, cyanosis of lips and face and extremities rigidity, and the symptoms could spontaneously remitted in 1-2 minutes. Abnormal epileptic wave was shown in electroencephalogram (EEG), and neuronal migration disorder (smooth brain and megagyrus) was shown in magnetic resonance imaging (MRI). Heterozygous mutation of c.387C>A (p.C129X) was found in TUBA1A gene by gene detection, and the fluorescence quantitative PCR showed that the mutation affected RNA level. Patient 2 was a 6-month-old girl. She had no obvious inducement of convulsion, which was characterized by sudden nodding of head, adduction of upper limbs and a series of attacks. There was no obvious shaking and stiffness in the limbs, and no obvious abnormality in lip color and complexion. Long-term EEG showed high degree of arrhythmia and isolated or serial spastic seizures. MRI showed bilateral fronto-parietal giant gyrus malformation. A heterozygous mutation (c.848A>G) in TUBA1A gene were found in this patient. Conclusion　MCD is caused by TUBA1A gene abnormality and genetic testing can help clinical diagnosis.

Key words: 　malformations of cortical development;　TUBA1A gene;　clinical characteristic;　child