TUBB4A and tubulinopathy: In addition to cortical malformations, the tubulinopathies also include disorders of ocular motor function (associated with variants in TUBB3, TUBB2B & TUBA1A), whispering dysphonia (TUBB4A), amyotrophic lateral sclerosis (TUBA4A), female meiotic infertility (TUBB8), Leber congenital amaurosis with hearing loss (TUBB4B), and macrothrombocytopaenia (TUBB1) (Kunishima et al., 2009; Bahi-Buisson et al., 2014; Smith et al., 2014; Feng et al., 2016; Luscan et al., 2017; Strassel et al., 2019; Jurgens et al., 2021; Kimmerlin et al., 2022).