The proband (II-6) is a 65-year-old woman. At the age of 55 years, complex partial seizures started and she also complained of episodic headache. General and neurological examinations were unremarkable. Brain MRI showed bilateral, supra- and infratentorial cavernomas, including the brain stem. EEG at that time displayed bilateral temporal paroxysmal activity, and the epileptic seizures were controlled with levetiracetam 500 mg b.i.d. Genetic analysis of DNA extracted from peripheral blood lymphocytes was performed. CCM1/KRIT 1 coding exons and their intronic boundaries were PCR-amplified and screened with NM_194454.1 as the sequence reference. A novel nucleotide substitution c.1927C>T (p.Gln643*) within the exon 17 was found.