Table II.
Summary of the patient and 16 previously reported MIC-CAP cases caused by STAMBP mutations.
| Patients | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 |
|---|---|---|---|---|---|---|---|---|---|
| Basic characteristics | |||||||||
| Reference | This study | McDonell et al 2013 | |||||||
| Gender | M | F | M | M | M | M | F | M | F |
| Age | 1 year 3 months | 2 years | 9 months | 12 months | 2 years | 22 days | 5 years 4 months | 2 months | 28 months |
| Ethnicity | Chinese | African-American | ED | European | European | European | European | European | |
| GA, BW (weeks, SD or g) | 40+5, 3,600 | 39, −1.5 | 39, −1.5 | 36+5, −1.5 | 36, −2 | 37, −2 | Term, +1.8 | 36, −1.5 | 37+2, −4 |
| Symptoms and signs | |||||||||
| Microcephaly | + | + | + | + | + | + | + | + | + |
| Capillary malformations | + | + | + | + | + | + | + | + | + |
| Dysmorphic appearancea | +1,4 | +3 | +3 | − | +3 | +3 | +3 | +3 | +3 |
| IE (age of onset) | +(3 months) | +(NA) | +(NA) | +(NA) | +(NA) | +(NA) | +(NA) | +(NA) | + |
| Infantile spasms | + | + | − | + | − | − | − | − | NA |
| Myoclonus | + | − | + | + | + | − | − | + | + |
| Developmental delay | + | + | + | + | + | + | + | + | + |
| Spastic quadriparesis | + | + | + | + | + | + | − | − | + |
| Optic atrophy | NA | + | + | + | + | + | NA | NA | + |
| Dyskinesia | + | NA | NA | NA | NA | NA | NA | NA | NA |
| Auxiliary examination | |||||||||
| Neuroimaging featuresb | +d | +c–e | +c–e | +c–e | +c,d | +c–e | − | +c–e | +c–e |
| EEG anomalies | + | Presumed+f | Presumed + | Presumed + | Presumed + | Presumed + | Presumed + | Presumed + | Presumed + |
| Patient | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | Total |
| Basic characteristics | |||||||||
| Reference | McDonell et al 2013 | Faqeih et al 2015 | Naseer et al 2016 | Hori et al 2018 | Demikova et al 2018 | ||||
| Gender | F | M | M | M | M | M | M | F | 5 F/12 M |
| Age | 8 months | 15 months | 8 years 6 months | 5 years | NA | NA | 2 years | 6 months | |
| Ethnicity | Polynesian | ED | Arabic | Egyptian | Japanese | Russia | 9 | ||
| GA, BW (weeks, SD or g) | 37+6, −1.5 | 35, −1.5 | Term. 2,600 | NA, 2,800 | NA | NA | 37, 2,680 | 30, 2,250 | |
| Symptoms and signs | |||||||||
| Microcephaly | + | + | + | + | + | + | + | + | 17 (100%) |
| CM | + | + | + | + | + | + | + | + | 17 (100%) |
| Dysmorphic appearance | +3 | +3 | +1,2 | +1,2,3 | +1,2,3 | +1,2,3 | +1,2,4 | +1,4 | 17 (100%) |
| IE (age of onset) | + | + | +(7 months) | +(7 months) | +(Infancy) | +(Infancy) | +(7 months) | +(2 months) | 17 (100%) |
| Infantile spasms | + | + | NA | NA | NA | NA | + | + | 7 (41.2%) |
| Myoclonus | NA | + | NA | NA | NA | NA | NA | + | 8 (47.1%) |
| Developmental delay | + | + | + | + | + | + | + | + | 17 (100%) |
| Spastic quadriparesis | + | + | + | + | NA | NA | − | + | 12 (70.1%) |
| Optic atrophy | − | − | + | + | + | + | − | NA | 10 (58.8%) |
| Dyskinesia | + | NA | NA | NA | NA | NA | NA | NA | 2 (11.2%) |
| Auxiliary examination | |||||||||
| Neuroimaging features | +c–e | +c,d | +d | +d | +c,d | +c,d | +d | +d | 16 (94.1%) |
| EEG anomalies | Presumed + | Presumed + | + | + | + | + | + | + | 17 (100%) |
P2 and P3, P12 and P13, and P14 and P15 were siblings. P12 and P13, and P14 and P15 were born to parents from consanguineous marriage.
a
Dysmorphic appearance: 1widely spaced eyes; 2long palpebral fissures; 3underdeveloped distal phalanges; 4downturned mouth.
b
Neuroimaging features:
c
simplified gyral pattern
d
cerebral atrophy/increased extra-axial space
e
hippocampal hypoplasia.
f
Presumed +: These cases had intractable epilepsy but without detailed EEG data. BW, birth weight; CM, capillary malformations; EEG, electroencephalography; ED, European descent; GA, gestational age; IE, intractable epilepsy, NA, not available.