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]

Two of the herein described individuals (i084n, i085n) also presented these features. [ojrd.biomedcentral.com]

Motor and cognitive impairments are present in almost all individuals with a tubulinopathy, most affected individuals have severe-to-profound intellectual disability. [globalgenes.org]

Abnormalities of the midbrain tectum were recorded when present. [ajnr.org]

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

• 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]

  The clinical features of the tubulinopathies include motor and intellectual disabilities and epilepsy. [globalgenes.org]

  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]

  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]

• Malingering

  [PubMed: 24860126] Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, Lerman-Sagie T. [ncbi.nlm.nih.gov]

• Developmental Disorder

  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]

  Recent revelations on MT functions and their interactions with MAPs in so many developmental processes make it clear that disorders of MT and MAP formation and function cause many developmental brain disorders.8,13,25⇓⇓⇓–29 Although some MR imaging findings [ajnr.org]

• 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]

  We suggest that recognition of this characteristic feature aids in the diagnosis of tubulinopathy, especially when associated with microcephaly. [ajnr.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. [ojrd.biomedcentral.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]

Materials and methods Clinical reports of 3 novel cases For the purpose of this study the clinical course of three individuals, who presented between 1999 and 2016 at our Center of Developmental Neurology and Social Pediatrics for investigation of the etiology [ojrd.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]