A novel mutation in the sodium channel alpha 1 subunit gene in a child with Dravet syndrome in Turkey

作者：Arslan Mutluay^*; Yis Uluc; Caglayan Hande; Akin Ridvan

来源：Neural Regeneration Research, 2013, 8(10): 955-958.

DOI：10.3969/j.issn.1673-5374.2013.10.011

• neural regeneration
• clinical practice
• Dravet syndrome
• sodium channel alpha 1 subunit gene
• mutation
• child
• Turkish
• epilepsy
• refractory seizures
• neuroregeneration

Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel alpha 1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel alpha 1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.

• 出版日期2013-4
• 单位中国人民解放军军事医学科学院