Canella, M.

patient family mutation hemangioblastoma tumor seizure disease germline cerebellar hemangioblastoma linkage vhl gene park 7 region study region vhl disease lobe epilepsy cerebellar epilepsy analysis neurology park 7 suppressor table family history parkinsonism neurology vol 51 allele polymorphism park 6 status epilepticus hippel-lindau onset chromosome parkin marker recessive factor brain ar-ep vhl gene mutations history von hippel-lindau disease university autosomal children promotor genotype locus genet control convulsion department fisher epilepticu status pdyn promotor polymorphism polymerase chain reaction park 7 locus expression change 2 february 2002 splice acceptor sequence frequency 4 families ϫ1 position deletion generalization neurol germline mutations hospital brain tumors point early-onset ar-ep loci interval hippocampal syndrome sample evidence individual