Table 1

Clinical and imaging features of patients with variants in TUBB2A

Patient	1	2	3	4	5	6	7	8	9	10	11	12
Sex	M	M	F	M	F	M	M	F	F	F	M	M
Nucleotide sequence variation	c.145G>A	c.1186C>T	c.146T>G	c.267C>A	c.5G>A	c.1070C>T	c.1070C>T	c.743C>T	c.743C>T	c.1228G>A	c.689C>T	c.743C>T
Protein sequence variation	p.(Val49Met)	p.(His396Tyr)	p.(Val49Gly)	p.(Asn89Lys)	p.(Arg2His)	p.(Pro357Leu)	p.(Pro357Leu)	p.(Ala248Val)	p.(Ala248Val)	p.(Glu410Lys)	p.(Ser230Leu)	p.(Ala248Val)
Inheritance	De novo	De novo	De novo	De novo	De novo	De novo	De novo	De novo	De novo	De novo	De novo	De novo
Age at examination	5 years	7 years	2 years 6 months	6 years 8 months	2 years 8 months	15 years	11 years	8 years 2 months	3 years	4 years 2 months	32 years	4 years 8 months
Mircocephaly	No	Yes	Yes	No	Yes	Yes	No	n/a	n/a	No	No	Yes
Dysmorphic features	Yes	n/a	No	Facial dysmorphisms, abnormal dermatoglyphs	Facial dysmorphisms, clinodactyly of toes	Mild dysmorphisms	No	No	n/a	Epicanthus	Facial asymmetry	No
ID	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Motor impairment	Ambulant>2 years	Non-ambulatory	Non-ambulatory	Broad-based gait, stereotypes	Ambulant at 26 months, broad-based gait	Severe impairment	Non-ambualtory, GMFCS5	Walks with support	Ambulated at 38 months	No	Ambulated at 2 years	Ambulated at 25 months
Speech	Non-verbal	Non-verbal	Non-verbal	Non-verbal	Single words	Non-verbal	Non-verbal	Non-verbal	Non-verbal	Delayed and impaired	Delayed and impaired	Delayed and impaired
Social	Autistic traits	n/a	Poor contact	ASD, short attention span, impulsive behaviour	Short attention span, startle response to noises	Poor eye contact	n/a	Autistic traits, short attention span	Poor eye contact	Well-integrated in a Montessori kindergarden	Hyperactive behaviour, autistic features as adult	Normal
Epilepsy	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Clinically suspected, normal EEG	Yes	Yes
Age at seizure onset	8 months	5 years	5 months	7 months	10 months	6 months	2 months	6 months	Neonatal	n/a	3 years	4 years
Seizure type	Convulsive febrile and non-febrile seizures	Generalised tonic–clonic seizures, myoclonia	n/a	Infantile spasms, myoclonic seizures	Febrile seizures, multifocal seizures	Infantile spasms, tonic seizures	Infantile spasms, tonic seizures	Infantile spasms, intractable epilepsy	Crytopgenic generalised epilepsy	/	Complex focal seizures with tonic–clonic generalisation	Focal seizures
Refractory	No	No	No	Yes	Yes	No	Yes	Yes	n/a	/	No	No
Brain imaging
Age at MRI	5 years	n/a	2 months 3 weeks	1 years 11 months and 7 years	10 months	n/a	10 months	8 years1 month	3 years 7 months	4 years 5 months and 12 years	8years 4months	17 months/25 months/4.5 years
Gyral pattern	Normal	Dysgyria	Dysgyria	Dysgyria	Normal	Dysgyria	Dysgyria	Normal	Normal	Dysgyria	Cortical heterotopia	Dysgyria
Severity	/	Mild	Severe	Mild	/	Severe	Severe	/	/	Mild	/	n/a
Gradient	/	Temporoparietal	Insular, parietal	Anterior>posterior	/	Diffuse	Diffuse	/	/	Normal	Right parietal region	Insular, parietal
White matter	Normal	Normal	Normal	Prominent Virchow-Robin spaces	Reduced	Severely reduced	Reduced	Normal	Mildly reduced, posterior>anterior	Normal	Normal	Prominent Virchow-Robin spaces
Lateral ventricles	Normal	Normal	Enlarged (left>right)	Enlarged	Enlarged	Enlarged, hooked frontal horns	Dilated, hooked frontal horns	Enlarged, asymmetric septal region	Enlarged occipital horns (left>right)	Normal	Enlarged occipital horns (left>right)	Normal
Corpus callosum	Normal	Dysmorphic	Partial agenesis	Mildly dysmorphic	Hypoplasia	Partial agenesis	Diffuse hypoplasia	Hypoplasia	Normal	Normal	Normal	Thin body
Basal ganglia	Normal	Normal	Dysplasia	Normal	Normal	Dysmorphic	Dysmorphic	Normal	Mildly dysmorphic	Normal	Normal	Normal
Hippocampus	Normal	Normal	Normal	Normal	Normal	Dysplastic	Normal	Normal	Normal	Normal	Normal	Normal
Brainstem	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Cerebellum	Normal	Normal	Small haemorrhage (left hemisphere)	Normal	Normal	Vermis hypoplasia and asymmetry, mild cortical atophy	Vermis hypoplasia and dysplasia	Mild vermis hypoplasia	Normal	Normal	Dysplastic vermis	Normal

/, not applicable; ASD, autistic spectrum disorder; DCDA, dichorionic–diamniotic; EEG, electroencephalogram; GMFCS, Gross Motor Function Classification Scale; n/a, not available.