. 2019 May 22;6:24. doi: 10.1038/s41439-019-0055-9

Table 1.

Clinical comparison of our patients with 31 previously reported ASNSD cases^1,5–17

									Neurological features							MRI findings
Publication	Family	Ethnicity	ASNS mutation (new variant)	Patient number	Gender	Age at report	Birth weight [g]	Birth head circumference [cm]	Microcephaly	Abnormal EEG	Epilepsy (age of onset)	Hyperekplexia	Hyperreflexia	Axial hypotonia	Psychomotor delay	Decreased cerebral volume	Decreased size of pons and/or cerebellum
Ruzzo et al.¹	1	Iranian Jews	c.1084T>G (1) p.F362V	1	M	14 y	NA	31.5	+	+	+(1 m)	−	+	−	+	+	+
	2	Iranian Jews	c.1084T>G p.F362V	2	M	14 y	NA	31	+	+	+(2 w)	−	+	−	+	+	+
	2	Iranian Jews	c.1084T>G p.F362V	3	F	12 y	NA	31	+	+	+(3 w)	−	+	−	+	+	+
	3	Bangladeshi	c.1648 C>T (2) p.R550C	4	M	4 m	3400	31.5	+	+	−	+	+	−	+	+	+
				5	M	3 m	3520	33	+	+	−	+	+	+	+	+	+
				6	M	6 m	3230	32	+	+	−	+	+	+	+	+	+
	4	French Canadian	c.17C>A (3)/c.1648 C>T p.A6E/p.R550C	7	M	9 d	NA	31.5	NA	NA	+(4 d)	−	+	+	+	+	+
				8	M	11 m	NA	31	+	+	+(9 m)	−	+	+	+	+	+
				9	M	12 m	2160	28.5	+	+	+(8 d)	−	+	+	+	+	+
Alfadhel et al.⁶	5	Saudi Arabian	c.1193A>G (4) p.Y398C	10	M	5 y	3100	29.5	+	+	+(1 d)	−	+	+	+	+	+
Alfadhel et al.⁶	5	Saudi Arabian	c.1193A>G (4) p.Y398C	11	F	4 y	2650	26.5	+	+	+(1 d)	−	+	+	+	+	+
Ben Salem et al.⁷	6	Emirati	c.1193A>C (5) p.Y398C	12	M	5 y	3100	29.5	+	+	+(1 d)	−	+	NA	+	+	+
Palmer et al.¹²	7	Chinese/Brunei	c.866G>C (6)/c. 1010C>T (7) p.G289A/p. T337I	13	M	7 y	3340	32.5	+	+	+(1 m)	−	+	+	+	+	+
Reed et al.⁸	8	Yemeni	c.198_202delATATC (8) p.K66Nfs*10	14	F	3 m	2600	31	+	+	−	+	+	+	+	−	−
Sun et al.²⁴	9	Indian	c.1019G>A (9) p.R340H	15	F	11 m	2220	30.5	+	+	−	−	+	+	+	+	+
Sun et al.²⁴	9	Indian	c.1019G>A (9) p.R340H	16	F	5 m	2240	28.5	NA	−	−	+	+	+	+	+	+
Seidahmed et al.¹⁵	10	Saudi Arabian	c.1219C>T (10) p. R407*	17	M	9 m	2675	29	+	+	+(NA)	+	+	−	NA	+	+
Seidahmed et al.¹⁵	11	Saudi Arabian	c.944A>G (11) p.Y315C	18	M	4 y	2790	29	+	+	−	+	+	−	+	+	+
Gataullina et al.¹⁰	12	NA	c.1439C>T (12)/c.1648 C>T p.S480F/p.R550C	19	M	8 m	3760	34	+	+	+(24 h)	−	NA	+	+	+	+
Gataullina et al.¹⁰	12	NA	c.1439C>T (12)/c.1648 C>T p.S480F/p.R550C	20	F	8 m	NA	31	+	+	+(4 m)	+	NA	NA	+	+	+
Yamamoto et al.¹⁷	13	Japanese	c.434T>C (13)/c.740T>G (14) p.L145S/p.L247W	21	M	26 m	2408	29	+	+	+(7 m)	(+)	+	+	+	+	+
Yamamoto et al.¹⁷	14	Japanese	c.1466T>A (15)/c.1623–1624del (16) p.V489D/p.W541Cfs*	22	M	19 m	3122	33.4	+	+	+(3 m)	+	+	+	+	+	+
Gupta et al.¹¹	15	Indian	c.1138G>T (17) p.A380S	23	F	2.5 y	NA	NA	+	+	+(3 m)	−	+	+	+	+	+
Abhyankar et al.⁵	16	NA	c.728T>C (18)/c.1097G>A (19) p.V243A/p. G366E	24	NA	15 m	NA	NA	+	NA	+(NA)	NA	NA	NA	+	+	+
Sacharow et al.¹³	17	Emirati	c.146G>A (20) p.R49Q	25	M	7 y	3400	34	+	+	+(6 m)	−	NA	−	+	+	NA
Sacharow et al.¹³	17	Emirati	c.146G>A (20) p.R49Q	26	F	4 y	3000	NA	+	+	+(6 m)	−	+	+	+	+	NA
Galada et al.⁹	18	Indian	c.1211G>A (21) p.R404H	27	M	10 d	2030	29.5	+	NA	+(24 h)	−	+	NA	NA	+	+
	19	Indian	c.224A>G (22)/c.413A>C (23) p.N75S/p.D138A	28	F	NA	2300	29	+	NA	−	−	+	NA	NA	+	+
	20	Indian	c.1649 G>A (24) p.R550H	29	M	13 m	2800	30	+	NA	+(24 h)	−	+	NA	+	+	+
Schleinitz et al.¹⁴	21	German	c.1165G>C (25)/c.601delA (26) p.E389Q/p.M201Wfs*28	30	F	19 y	3320	29.5	+	+	+(24 h)	−	+	+	+	+	+
Schleinitz et al.¹⁴	21	German	c.1165G>C (25)/c.601delA (26) p.E389Q/p.M201Wfs*28	31	F	16 y	2450	30	+	+	+(1 m)	−	+	+	+	NA	NA
This report	22	Turkish	c.1108C>T (27) p.L370F	32	M	5.5 y	3100	33	+	+	+(2 m)	−	+	+	+	+	−
This report	22	Turkish	c.1108C>T (27) p.L370F	33	M	3.5 y	3000	31	+	+	+(6 m)	−	+	+	+	+	−

Positions in the ASNS gene are annotated to NCBI RefSeq NM_133436.3. Amino acid positions are assigned using RefSeq NCBI NP_597680.2

y years, m months, w weeks, d days, h hours, NA not available