Novel compound heterozygous mutations in LMAN2L cause early childhood refractory epilepsy

Table 2 :Laboratory results

	Case1	Case2(Convulsions before)	Case2(after convulsions)
LDH U/L	387	540	377
CK U/L	209	336	142
CKMB ug/ml	0.6	16.8	9.1
Blood biochemistry	normal	normal	normal
Liver function, kidney function	normal	normal	normal
Lacticacid mmol/L	1.9	1.6	3.6
blood ammonia umol/L	33→71→28→137		23
hcy umol/L	4.5		5.6
ESR mm/H	4		2
Ceruloplasmin mg/L	204.5

ⁱCKMB, creatine kinase isoenzymes; CK, Creatine Kinase; hcy, homocysteine; ESR, Erythrocyte Sedimentation Rate

ISSN: 1824-7288