Table 1.
Comparison of Family Members with GPR37L1-K349N Variant
| VI: 1* | VI:4* | VI:5* | VI:6 | VI:7 | VI:8 | VI:9 | VI:10 | VI:11 | VI:12 | |
|---|---|---|---|---|---|---|---|---|---|---|
| Age of Clinical Presentation (Years) | 14 | 14 | 13 | 12 | 10 | n/a | 13 | n/a | 11 | 12 |
| Age of Death (Years) | 19 | 19 | 18 | 18 | 16 | n/a | 20 | n/a | n/a | n/a |
| Current Age (Years) | n/a | n/a | n/a | n/a | n/a | 24 | n/a | 18 | 15 | 12 |
| Sex | male | female | female | female | female | female | female | female | male | male |
| K349N mutation | Not tested | Not tested | Not tested | Not tested | Not tested | Heterozygous | c.1047G>T (Lys349Asp) | WT | c.1047G>T (Lys349Asp) | c.1047G>T (Lys349Asp) |
| Recurrent Headaches | + | + | + | + | + | − | + | − | + | + |
| Progressive Myoclonic Epilepsy | + | + | + | + | + | − | + | − | − | − |
| Seizures | + | + | + | + | + | − | + | − | − | − |
| Visual Hallucinations | + | + | + | + | + | − | + | − | + | − |
| Cognitive Decline | + | + | + | + | + | − | + | − | − | − |
| Brain Imaging | mild prominence of the subarachnoid spaces; otherwise unremarkable | |||||||||
| EEG | intermittent superimposed posterior 5–6 Hz background activity, recurrent generalized high voltage 4–6 Hz spike, polyspike and slow wave discharges with occasional abortive generalized high voltage spike and slow wave discharges | generalized spike and wave complexes; occipital sharp waves |
*
Denotes individuals for whom clinical information was relayed by family members