期刊
GENE
卷 531, 期 2, 页码 467-471出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2013.08.096
关键词
KCNT1; Malignant migrating partial seizures in infancy; Molecular operating environment; Hot spot; Vagus nerve stimulation; Clorazepate
资金
- Japan Society for the Promotion of Science (JSPS) [21249062, 23659529]
- Ministry of Health, Labor and Welfare [21B-5, KB230019, KB230004]
- Central Research Institute for the Molecular Pathomechanisms of Epilepsy of Fukuoka University [117016]
- Grants-in-Aid for Scientific Research [23791201, 23659529] Funding Source: KAKEN
We performed analysis of KCNT1 in two unrelated patients with malignant migrating partial seizures in infancy. Both patients had intractable focal seizures since two months of age. Their seizures were characterized by a shift of epileptic focus during a single seizure and were resistant to most antiepileptic drugs but responded to vagus nerve stimulation in one and clorazepate in the other. Bidirectional sequencing for KCNT1 was analyzed by standard Sanger sequencing method. A de novo c.862G>A (p.Gly288Ser) missense mutation was identified at the pore region of KCNT1 channel in both patients, whereas all KCNT1 mutations in the previous reports were identified mostly in the intracellular C-terminal region. Computational analysis suggested possible changes in the molecular structure and the ion channel property induced by the Gly288Ser mutation. Because the G-to-A transition was located at CG dinucleotide sequences as previously reported for KCNT1 mutations, the recurrent occurrence of de novo KCNT1 mutations indicated the hot spots of these locations. (C) 2013 Elsevier B.V. All rights reserved.
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