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]

  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]

  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]

  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]

  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]

• Developmental Delay

  They may also be encountered in children with developmental delay. Tubulins play an important role in neuronal migration in the developing foetal brain. [radiopaedia.org]

  Brain 131 (10), 2647-2661, 20082572008Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation A Battaglia, HE Hoyme, B Dallapiccola, E Zackai, L Hudgins, ... [scholar.google.fr]

• Disability

  Case presentations Both patients have microcephaly and intellectual disability. [bmcmedgenet.biomedcentral.com]

  The third patient presented with a milder phenotype with normal head circumference, mild intellectual disability, and posterior pachygyria. [nature.com]

• Strabismus

  None of the patients showed dysmorphic facial features; one had congenital strabismus. Except for patient 3, all patients presented with seizures with a variable time of onset between the first months of life till after the 3rd year of life. [nature.com]

• Impulsivity

  These essentially develop in defects of progenitor cell migration, developmental defects in the axon and dendrite (structures of the neuron for the transmission of impulses to adjacent cells) and damages that affect the vitality of the neurons themselves [en.associazionesprint.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]