Table 1.

Clinical and imaging features associated with variants in TUBG1

Clinical features
	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7	Patient 8	Patient 9 (LIS-TUB-027)	Patient 10 (LIS-TUB-028)	Patient 11 (LIS-TUB-029)
Reference	This report	This report	This report	This report	This report	This report	This report	This report	Poirier et al. [14]	Poirier et al. [14]	Poirier et al. [14]
Sex	M	M	F	F	F	M	M	F	F	F	M
Nucleotide sequence variation	c.63C>A	c.985G>T	c.776C>T	c.776C>T	c.776C>T	c.776C>T	c.769A>T	c.776C>T	c.991A>C	c.1160T>C	c.275A>G
Protein sequence variation	p.(Phe21Leu)	p.(Asp329Tyr)	p.(Ser259Leu)	p.(Ser259Leu)	p.(Ser259Leu)	p.(Ser259Leu)	p.(Ile257Phe)	p.(Ser259Leu)	p.(Thr331Pro)	p.(Leu387Pro)	p.(Tyr92Cys)
Mode of inheritance	de novo	Father's DNA n/a	de novo	de novo	Germline mosaicism in parent	de novo	de novo	de novo	de novo	de novo	de novo
Age at examination	33y	21y	19mo	14y	11y 6mo	9y 6mo	15y	18mo	31y	21y	18mo
Head circumference (SD)	57 cm	53.1 cm (<−2.6SD)	<−3.5SD	n/a	47.5 cm at 6y 6mo (<−3.3SD)	n/a	51.3 cm at 13y (<−2.5SD)	n/a	Normal	<−5.5SD	<−4SD
Dysmorphic features	No	No	No pictures	No pictures	No pictures	No pictures	No	No	n/a	n/a	n/a
Congenital anomalies	No	No	No	No	Strabismus	No	No	No	Cataract	n/a	n/a
Intellectual disability	Severe	Severe	n/a	n/a	Moderate	Moderate	Moderate (FS IQ-score 44)	Severe	Moderate ID	Severe ID	Severe ID
Motor impairment	Spastic quadriplegia; walks with support	Spastic quadriplegia	Delayed motor development	Unsteady gait	Spastic diplegia	n/a	n/a	Delayed motor development	Moderate CP	Spastic quadriplegia	Spastic quadriplegia
Speech and language development	No speech, only sounds	Non-verbal	Delayed	Non-verbal	Speaks 50 words	Non-verbal	Speakes 5–6 word sentences	Non-verbal	n/a	n/a	n/a
Other	Assisted feeding	Gastrostomy	–	–	Drooling	–	–	–	–	–	–
Epilepsy	Yes	Yes	No	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Age at seizure onset	36m	n/a	–	6m	4m	n/a	3y 11mo	5m	n/a	n/a	n/a
Seizure type	Tonic–atonic–myoclonic	Partial complex: versive seizure, myoclonic	–	Tonic-clonic	Generalized tonic-clonic	n/a	n/a	Focal, versive	Early onset epilepsy	Early onset epilepsy	Infantile spasms
Refractory	n/a	Yes	–	n/a	n/a	n/a	n/a	No	Yes	Yes	Yes
Imaging features
Age at MRI	36y	11y	1y 6mo	12mo	13y 7mo	2mo	6y	9y	n/a	n/a	n/a
Gyral pattern	Pachygyria over the posterior frontal lobe and parieto-occipital cortex	Agyria, diffuse	Pachygyria diffuse, mild over frontal lobes, moderate posterior, cortex 10–13 mm	Pachygyria diffuse, cell sparse zone over occipital lobes, cortex 13–15 mm	Pachygyria diffuse, mild over frontal lobe, and moderate over temporal and occipital lobes, cortex 6–13 mm	Pachygyria, diffuse, mild over frontal lobe, and moderate over temporal and occipital lobes, cortex >15 mm	Pachygyria, nearly normal cortex over frontal lobes, pachygyria over perisylvian and occipital lobes, cortex 6–10 mm	Pachygyria diffuse, mild over frontal lobe, moderate over temporal > occipital lobes, bilateral deep infolding parietal	Pachygyria, nearly normal cortex over frontal lobes, moderate over perisylvian and occipital lobes	Pachygyria diffuse, mild over frontal lobe, and moderate over temporal and occipital lobes	Pachygyria diffuse, mild over frontal lobe, and moderate over temporal and occipital lobes
Gradient	P>A	P>A	P>A	P>A	P>A	P>A	P>A	P>A	P>A	P>A	P>A
White matter	Enlarged perivascular spaces	Severely reduced	Mildly reduced	Mildly reduced	Normal	Normal	Mildly reduced	Mildly reduced	Normal	Mildly reduced	Severely reduced
Lateral ventricles	Enlarged posterior horns	Severly enlarged	Mildly enlarged	Mildly enlarged	Enlarged posterior horns	Mildly enlarged	Mildly enlarged posterior horns	Mildly enlarged	Normal	Mildly enlarged	Mildly enlarged
Corpus callosum	Normal	Thin	Normal	Normal	Normal	Thin	Normal	Thin	Dysmorphic, thick	Thin	Dysmorphic, thick
Basal ganglia	Normal	Dysplastic	Normal	Normal	Normal	Normal	Normal	Dysplastic	Normal	Normal	Normal
Hippocampus	Malrotation	n/a	Normal	Normal	Normal	Normal	Normal	Normal	n/a	n/a	n/a
Brainstem	Normal	Hypoplasia	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Cerebellum
Cortex	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
White matter	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Vermis	Normal	Hypoplasia	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal

RefSeq NM_001070.4A anterior, CP cerebral palsy, F female, FS IQ full-scale IQ, ID intellectual disability, M male, mo months, n/a not available, P posterior, SD standard deviation, y years, – absent