Patient B further fits a more typical presentation, with well-controlled epilepsy and mild hypertonia, whereas Patient A’s presentation is much milder without these other features. [bmcmedgenet.biomedcentral.com]

All three patients presented with seizures in early life. [nature.com]

Dysmorphic basal ganglia are the hallmark of tubulinopathies (found in 75% of cases) and are present in 100% of central pachygyria and polymicrogyria-like cortical dysplasia and simplified gyral malformation syndromes. [ncbi.nlm.nih.gov]

25 Amrom D...Jansen AC 23495813 2014 13 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 25 Hikita N...Tokuhara D 23528852 2014 14 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development [malacards.org]

• Epilepsy

  Results We describe two unrelated individuals with mildly simplified gyration and infantile-onset epilepsy, harbouring de novo variants that affect adjacent amino acids in a novel tubulinopathy gene, TUBB2A. [jnnp.bmj.com]

  25 61 Bahi-Buisson N...Chelly J 24860126 2014 5 De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. 25 61 Cushion TD...Dobyns WB 24702957 2014 6 Overlapping cortical malformations and mutations [malacards.org]

  All but one of the eleven reviewed cases of TUBG1 mutations involved epilepsy, majority of which were refractory and early-onset in nature. [bmcmedgenet.biomedcentral.com]

  Malformations of cortical development: Burdens and insights from important causes of human epilepsy. Lancet Neurol. 2004;3:29–38. [PubMed] [Google Scholar] 2. Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P. [ncbi.nlm.nih.gov]

  Clinical symptoms include a global developmental disorder, epilepsy, often primary microcephaly and eye involvement of various degrees. The diagnosis is usually made on the basis of the specific brain malformation findings. [medicover-genetics.com]

• Suggestibility

  21403111 2011 25 Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 25 Poirier K...Chelly J 20829227 2010 26 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest [malacards.org]

  Conclusion This report expands the spectrum of TUBG1 mutation manifestations, suggesting the possibility of less severe phenotypes for patients and families, and influencing genetic counselling strategies. [bmcmedgenet.biomedcentral.com]

  […] putamen appear fused with an absence of the anterior limb of the internal capsule, are so distinctive within the phenotypic range of MCDs, in fact, that this specific finding, when seen in the setting of other cortical malformations, should strongly suggest [ncbi.nlm.nih.gov]

  TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet. 2010;19:2817–27. Article PubMed PubMed Central CAS Google Scholar 35. [nature.com]

• Dystonia

  […] lissencephaly and Hirschsprung disease. 25 Hikita N...Tokuhara D 23528852 2014 14 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 25 Poirier K...Chelly J 23603762 2013 15 Whispering dysphonia (DYT4 dystonia [malacards.org]

A full septic workup was completed and negative. [bmcmedgenet.biomedcentral.com]

Foetal cases (n = 25) represent the severe end of the spectrum and show specific abnormalities that provide insights into the underlying pathophysiology. [ncbi.nlm.nih.gov]