Table 2 Clinical features and comparative data of our index case with the patients described by Marafi et al. [7]
Reference | Marafi et al. 2020 [7] | Our study | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mutation | p.I154T | p.R658W | p.T675K | p.W586* | p.R658Q | p.E891K | p.R659* | p.G471R | ||||
Domain | Ligand-binding domain | Transmembrane domain | Transmembrane domain | Transmembrane domain | Intracellular domain | Trans-membrane domain | Ligand-binding domain | |||||
Sex | M | M | F | M | F | M | M | M | F | M | M | F(VI4) |
Current age | 13 yrs | 10 yrs | 15 yrs | 10 yrs | Died at 13 yrs | N/A | Died at 13 mo (respiratory failure) | Died at 45 days | Died at 4 yrs | 2 yrs 2 mo | Died at 5 yrs | 13yrs |
Age at last Exam | 13 yrs. | 10 yrs. | 15 yrs. | 10 yrs. | N/A | 5 yrs. 6 mo. | 13 mo. | 1 mo. | 3 yrs. 3 mo. | 7 mo. | 20 mo. | 13 yrs. |
Occipital frontal circumference-last exam cm (z score) | 50 cm (−2.9sd) | N/A | 50.5 cm (−3.31sd) | 48.6 cm (−3.29sd) | N/A (<−2 sd) | N/A (<−2 sd) | N/A | N/A | 42.5 (−3.8 sd) | 40 cm (−3.2 sd | 44.5 cm (−2.7 sd) | 49 .5cm (−2sd) |
Microcephaly | + | N/A | + | + | + | + | N/A | N/A | + | + | + | + |
Axial Hypotonia | + | + | + | + | N/A | N/A | + | N/A | + | + | + | + |
Peripheral hypertonia | + | + | + | + | N/A | + | N/A | N/A | − | + | + | + |
Hyper-reflexia | + | + | − | N/A | N/A | N/A | N/A | N/A | − | + | + | + |
DD/ID | + | + | + | + | + | + | + | + | + | + | + | + |
Seizures (onset) | + (4 mo.) | + (8 mo.) | + (1 mo.) | + (1date of life) | + | + (3 w) | + (3 mo.) | + (1 w) | + (5 mo.) | + (2 mo.) | + (2d) | + (3 mo.) |
Drug resistant epilepsy (current anti -epileptic drugs | − | − | + | + | N/A | N/A | + | − | + | + | + | + |
Seizure types | Myoclonic | GTCS | Myoclonic & GTCS | Myoclonic & GTCS | N/A | N/A | N/A | N/A | GTCS & focal | Myoclonic & GTCS | Multifocal | Focal tonic, epileptic spasm |
Status epilepticus | − | − | + | − | N/A | N/A | + | N/A | − | + | + | − |
Electro-encephalogram (EEG) findings Epileptiform activity | + | N/A | − | + | N/A | N/A | + | − | + | + | + | + |
Type of neuroimaging (age) | Brain MRI (3 yrs) | Brain MRI (2 yrs) | Serial brain MRIs (2 mo, 18 mo, 3 yrs, 7 yrs & 10 yrs) | Serial brain MRIs (2 yrs & 5 yrs) | N/A | Brain MRI (N/A) | CT head (2 mo) | Brain MRI (2 w) | Brain MRI (3 yrs) | Brain MRI (6 mo) | Brain MRI (18 mo) | Brain MRI (3 yrs) |
Neuroimaging findings Cerebral atrophy | + | + | + | + | N/A | + | + | − | + | − | + | + |
Hypomyelination | + | − | + | + | N/A | + | + | − | + | + | + | − |
Corpus callosum thinning | + | + | + | + | N/A | N/A | N/A | − | + | + | + | + |
Facial dysmorphy | At 13 yrs showing prominent teeth and everted lower lip. | Facial photograph of individual II-2 (Family 1) at 10 yrs shows high forehead and hypotonic face | Facial photograph of individual II-1 (Family 2) at 15 yrs shows a wide mouth | Facial photograph of individual II-2 (Family 2) at 10 yrs shows a wide mouth. | − | Facial features of individual II-6 at 6 yrs showing thick lips, crowded teeth, low frontal Hairline, remarkable nose, and bulbous nasal tip. | Frontal hump, convergent strabismus of the eye, globular eyes, incisors large and prominent, prominent upper dental arch | |||||