Table 1 Comparison of clinical features and brain magnetic resonance imaging findings in patients with TUBA1A mutations: the six unrelated patients described in this study and the five patients (numbered cases 1, 2, 3, 5 and 8) previously described by Poirier and colleagues.20

Patient sex/age*	*TUBA1A* mutation	Clinical features				Brain MRI findings
Patient sex/age*	*TUBA1A* mutation	Current OFC	Motor delay	Other signs	Cognitive delay	Epilepsy	Cortex maximum of the abnormalities	Dysgenesis of internal capsule	Corpus callosum	Cerebellum
This series
1/M/7 years	c.790C>Tp.R264C	−4 SD	Spastic diplegia, walk independently	Transient strabismus	Short sentences	Absent	Perisylvian pachygyria	Severe	Posterior agenesis	Normal
2/M/19 months	c.790C>Tp.R264C	−4 SD	Spastic tetraplegia	Facial diplegiaTransient strabismus	No language	Early GTS controlled	Perisylvian pachygyria	Moderate	Mild hypoplasia	Normal
3/M/5.5 years	c.1190T>Cp.L397P	−4 SD	Spastic diplegia, walk with assistance	Facial diplegiaTransient strabismus	Few words	Absent	Perisylvian pachygyria	Severe	Posterior agenesis	Severe vermian dysplasia
4/F/4.5 years	c.1264C>Tp.R422C	−3SD	Spastic diplegia, walk independently	None	Short sentences	Absent	Perisylvian pachygyria	Severe	Mild hypoplasia	Mild vermian hypoplasia
5/M/7 years	c.1306G>Tp.G436R	−3SD	Spastic diplegia, walk independently	Facial diplegiaStrabismus	Short sentences	Absent	Perisylvian pachygyria	Severe	Mild hypoplasia	Mild vermian hypoplasia
6/F/7 years	c.1265G>Ap.R422H	−4 SD	Spastic tetraplegia	None	Babbles	Refractory	Posterior pachygyria	Moderate	Mild hypoplasia	Mild vermian hypoplasia
Poirier et al
Patient 1/M/4.5 years	c.790C>Tp.R264C	−4 SD	Spastic diplegia, walk with assistance	Facial diplegia	50 words	Absent	Perisylvian pachygyria	Severe	Mild hypoplasia	Normal
Patient 2/M/2 years	c.790C>Tp.R264C	−4.5 SD	Spastic diplegia, walk with assistance	Transient strabismus	Babbles	Absent	Perisylvian pachygyria	Severe	Mild hypoplasia	Vermian hypoplasia
Patient 3/M/12 years	c.1205G>Ap.R402H	−3 SD	Spastic tetraplegia	Facial diplegiaStrabismus	Babbles	Refractory	Posterior agyria	Mild	Mild hypoplasia	Mild vermian hypoplasia
Patient 5/F/2.5 years	c.562A>Cp.I188L	−4 SD	Spastic diplegia, walk with assistance	Facial diplegiaStrabismus	Babbles	Early GTS controlled	SBH	Mild	Posterior agenesis	Severe vermian dysplasia
Patient 8/M/18 years	c.1256C>Tp.S419L	−1 SD	Spastic diplegia, walk with support	Facial diplegiaStrabismus	Babbles	Refractory	Posterior pachygyria	Mild	Mild hypoplasia	Mild vermian hypoplasia

AED, antiepileptic drug; F, female; M, male; MRI, magnetic resonance imaging; OFC, occipito-frontal circumferences; SD, standard deviations.
*Age at the most recent follow-up.