Table 1.

Clinical features of patients with mutations in ASNS

	Family A	Family B		Family C			Family D
Consanguinity	yes	no		yes			no
Ethnic origin	Iranian Jews	Iranian Jews		Bangladeshi			French Canadian
Subjects	A.II.1	B.II.2	B.II.4	C.II.1	C.II.3	C.II.4	D.II.1	D.II.2	D.II.3
Genotype	p.F362V/p.F362V	p.F362V/p.F362V	p.F362V/p.F362V	Not determined	p.R550C/p.R550C	p.R550C/p.R550C	p.A6E/p.R550C	p.A6E/p.R550C	p.A6E/p.R550C
Gender	Male	Male	Female	Male	Male	Male	Male	Male	Male
Age	14 y	14 y	12 y	4 mo†	3 mo†	6 mo†	9 days†	11 mo†	12 mo†
HC1 at birth (cm)	31.5 (−2.5SD)	31 (−3SD)	31 (−2SD/−3SD)	30.5 (−3.5SD)	33 (−1SD/−2SD)	32 (−2SD)	31.5 (−2.5SD)	31 (−3SD)	28.5 (−1SD/−2SD)2
Developmental delay	severe	severe	severe	severe	severe	severe	severe	severe	severe
Progressive microcephaly	yes	yes	yes	yes	yes	yes	NA	yes	yes
Epilepsy
age at onset	1 mo	2 wks	3 wks	none	none	none	4 days	9 mo5	8 days
type of seizures	spasms, tonic, myoclonic, GTC3	spasms, tonic, myoclonic, GTC3	spasms, tonic, myoclonic, GTC3	none	none	none	tonic, orobuccal	partial complex	partial complex
EEG pattern	hypsarrythmia, MISF4	hypsarrythmia, MISF4	hypsarrythmia, MISF4	disorganized background	disorganized background	disorganized background	NA	suppression bursts, MISF	suppression bursts, MISF
Clinical examination
axial hypotonia	no	no	no	no	yes	yes	yes	yes	yes
appendicular hypertonia	yes	yes	yes	yes	yes	yes	yes	yes	yes
hyperreflexia	yes	yes	yes	yes	yes	yes	yes	yes	yes
hyperekplexia	no	no	no	yes	yes	yes	no	no	no
Brain MRI
decreased cerebral volume	yes	yes	yes	yes	yes	yes	yes	yes	yes
decreased size of pons	no	no	no	yes	yes	yes	yes	yes	yes
simplified gyri	no	no	no	yes	yes	yes	yes	yes	yes

^†deceased;

¹head circumference;

²born at 33.5 weeks of gestation;

³generalized tonic-clonic seizures;

⁴multiple independent spike foci;

⁵tremulous movements and abnormal EEG at 4 days; partial complex seizures with eye deviation and focal epileptic activity at 9 months.