. 2023 Jun 21;31(9):1023–1031. doi: 10.1038/s41431-023-01410-z

Table 1.

Clinical data of the 97 patients with BRAT1 biallelic variants.

		RMFSL						NEDCAS						Total
		Cohort		Literature		Total		Cohort		Literature		Total		Cohort		Literature		Total
Epidemiological data	Number of families	25/45	56%	20/29	69%	45/74	61%	10/45	44%	9/29	31%	29/74	39%	45/74	61%	29/74	39%	74 families
Epidemiological data	Number of patients	31/57	54%	28/40	70%	59/97	61%	26/57	46%	12/40	30%	38/97	39%	57/97	61%	40/97	39%	97 patients
Prenatal features	Prenatal features	15/30	50%	7/14	50%	22/44	50%	1/21	5%	0/9	0%	1/30	3%	16/51	31%	7/23	30%	23/74	31%
	Hydramnios	2/30	7%	0/14	0%	2/44	5%	0/21	0%	0/9	0%	0/30	0%	2/51	4%	0/23	0%	2/74	3%
	Oligohydramnios	1/30	3%	1/14	7%	2/44	5%	1/21	5%	0/9	0%	1/30	3%	2/51	4%	1/23	4%	3/74	4%
	Abnormal movements	8/30	27%	6/14	43%	14/44	32%	0/21	0%	0/9	0%	0/30	0%	8/51	16%	6/23	26%	14/74	19%
	IUGR	9/30	30%	0/14	0%	9/44	20%	0/21	0%	0/9	0%	0/30	0%	9/51	18%	0/23	0%	9/74	12%
Developmental stages	No developmental milestones	31/31	100%	28/28	100%	59/59	100%	0/26	4%	0/12	0%	0/38	0%	32/57	56%	27/40	68%	60/97	62%
	Walk acquisition	−		−		0/59	0%	21/26	81%	8/12	67%	29/38	76%	21/56	38%	8/39	21%	29/97	30%
	Only few steps							8/21	38%	0/8	0%	8/29	28%	8/21	38%	0/8	0%	8/29	28%
	Only with support							11/21	52%	4/8	50%	15/29	52%	11/21	52%	4/8	50%	15/29	52%
	Ataxic gait							17/21	81%	3/4	75%	20/25	80%	17/21	81%	3/4	75%	20/25	80%
	Language	−		−		0/59	0%	17/26	65%	9/12	75%	26/38	68%	17/55	31%	9/39	23%	26/97	27%
	Use few words							6/14	43%	5/6	83%	11/20	55%	6/14	43%	5/6	83%	11/20	55%
	Use short sentences							6/14	43%	1/6	17%	7/20	35%	6/14	43%	1/6	17%	7/20	35%
	Dysarthria							8/10	80%	6/6	100%	14/16	88%	8/10	80%	6/6	100%	14/16	88%
	Intellectual disability							26/26	100%	11/12	92%	37/38	97%	28/28	100%	12/13	92%	40/41	98%
Epilepsy	Seizures	31/31	97%	28/28	100%	59/59	100%	2/26	8%	4/12	33%	6/38	16%	33/57	58%	32/40	80%	65/97	67%
	Age of onset (median)	3 days (D0-M15)		1 day (D0-M8)		1 day (D0-M15)		4 years (Y3-Y5)		2,5 years (M3-Y13)		3 years 1 month (M3-Y13)		10 days (D0-Y5)		1 day (D0-Y13)		3,5 days (D0-Y13)
	Pharmacoresistance	25/28	89%	26/26	100%	51/54	94%	1/2	50%	3/4	75%	4/6	67%	26/30	87%	29/30	97%	55/60	90%
Physical examination	Age at last exam (median)	80 days		5 months		90 days		7 years 7 months		6 years 1/2		7 years 3 months		3 years 1/2		1 year 1month		1 year 8 months
	Microcephaly	20/23	87%	22/23	96%	42/46	91%	6/22	27%	5/11	45%	11/33	33%	26/45	58%	27/34	79%	53/79	67%
	Dysmorphism	13/26	50%	17/22	77%	30/48	63%	9/20	45%	4/9	44%	13/29	45%	22/46	48%	21/31	68%	43/77	56%
	Hypotonia	15/30	50%	14/26	54%	29/56	52%	17/20	85%	6/9	67%	23/29	79%	32/50	64%	20/35	57%	52/85	61%
	Spasticity/hypertonia	27/30	90%	26/27	96%	53/57	93%	6/26	23%	5/10	50%	11/36	31%	33/56	59%	31/37	84%	64/93	69%
Ophtalmological features	Optic atrophy	3/13	23%	3/4	75%	6/17	35%	3/22	14%	3/7	43%	6/29	21%	6/35	17%	6/11	55%	12/46	26%
	Retinopathy	1/13	8%	0/4	0%	1/17	6%	7/22	32%	1/7	14%	8/29	28%	8/35	20%	1/11	9%	9/46	20%
	Nystagmus	1/6	17%	0/5	0%	1/11	9%	15/19	79%	8/9	89%	23/28	82%	16/25	64%	8/14	57%	24/39	62%
Brain MRI	Normal	7/29	24%	15/25	60%	22/54	41%	0/26	0%	0/11	0%	0/37	0%	7/55	13%	15/36	42%	22/91	24%
	Cerebellar atrophy	8/29	28%	6/25	24%	14/54	26%	26/26	100%	11/11	100%	37/37	100%	34/55	62%	17/36	47%	51/91	56%
	Cerebral atrophy	16/29	55%	15/25	60%	31/54	57%	0/26	0%	0/11	0%	0/37	0%	16/55	29%	15/36	42%	31/91	34%
	Delayed myelinisation	6/29	21%	6/25	24%	12/54	22%	0/26	0%	3/11	27%	3/37	8%	6/55	11%	9/36	25%	15/91	16%
	CC anomalies	7/29	24%	6/25	24%	13/54	24%	5/26	19%	1/11	9%	6/37	16%	12/55	22%	7/36	19%	19/91	21%
Survival	Death	28/31	87%	27/28	93%	55/59	93%	0/26	0%	0/12	0%	0/38	0%	28/57	47%	27/40	65%	55/97	57%
Survival	Age of death (median)	105 days (D11-Y23)		150 days (D6-Y5M9)		113 days (D6-Y23)		—		—		—		105 days (D11-Y23)		150 days (D6-Y5M9)		113 days (D6-Y23)

IUGR intra uterine growth retardation, D day, M month, Y year, CC corpus callosum.