MUTASI GEN SCN1A (EKSON 11, 14, 23, DAN 25) YANG BERHUBUNGAN DENGAN SPEKTRUM GENERALIZED EPILEPSY WITH FEBRILE SEIZURE PLUS (GEFS+) PADA ANAK

Main Author: , Elisabeth Siti Herini
Format: Article NonPeerReviewed
Terbitan: [Yogyakarta] : Lembaga Penelitian dan Pengabdian Kepada Masyaraka , 2009
Online Access: https://repository.ugm.ac.id/95219/
http://repository.ugm.ac.id/digitasi/index.php?module=cari_hasil_full&idbuku=3037
Daftar Isi:
  • <p>GEFS+ is an important epilepsy syndrome due to thf:! correlation between febrile seizure and other epilepsi syndromes. Moreover, there are correlations between benigna and severe epilepsy, focal and general epilepsy. The occurences of Sodium channel a subunit type 1 gene (SCN1A) mutation in patients with GEFS+ including severe myoclonic epilepsy in infancy (SMEI) and borderline SMEI (SMEB) have been reported in many countries. SCN1A consists of 26 exons