Akademik Veri Yönetim Sistemi
JOURNAL OF NEUROLOGICAL SCIENCES-TURKISH, cilt.32, sa.3, ss.610-616, 2015 (SCI-Expanded)
Dravet syndrome (DS) is a severe epilepsy syndrome starting in infantile period and caused usually by mutations of SCN1A gene. SUDEP (sudden unexplained death in epilepsy) is described as death in epilepsy patients with unknown reason even after postmortem examinations. DS is associated with a higher risk of SUDEP. A 20-year-old man had experienced his first seizures started as complex febrile seizure when he was 8 months old. Then generalized, myoclonic, atypical absence seizures had begun besides mental retardation. EEG showed diffuse slow waves in theta frequency, sharp and slow wave activities over the right centroparietal part. Although he had been used numerous anti-epileptic drugs at different times and combinations, his seizures continued 10-15 times in a month. He was diagnosed with DS in our center and a novel mutation of SCN1A gene was found in Exon 11 as C>T (c.1714) transition. This change causing substitution of serin instead of proline in the 566. aminoacid position of the protein (p.Pro566Ser) was reported for the first time in SCN1A database. Hypertension and tachycardia have developed when he was 19, but there is no additional findings regarding SUDEP etiology in the detailed examinations of cardiologists. This patient passed away in his last GTC seizure under the withness of his family. The autopsy could not demonstrate any reason for his death and supported definite SUDEP. In the light of this case, it is targetted to attract attention raised SUDEP risk in DS and necessity of cardiac treatment and planning of pursuits.