Table I.
KRIT1 Mutations | |||||||
---|---|---|---|---|---|---|---|
Patient | Age | Symptom | Location | Size (mm) | Total CCMs | Germline | Somatic |
354 | 54 | hemorrhage | Right posterior fossa | 38×32 | >12 | c.1363C>T | −34-bp |
exon 14 | exon 15 | ||||||
410 | 16 | seizure | Left frontal lobe | 18×20 | 2 | c.1363C>T | c.1300delG |
exon 14 | exon 14 | ||||||
356 | 15 | none | Right Parietal | 14×7 | 1 | c.1363C>T | Not conclusive |
exon 14 | |||||||
332 | 3 | Hemorrhage | Right Cerebellar | 14×8 | 6 | c.608T>G | Not conclusive |
PDCD10 | |||||||
exon 10 |