Meisler Miriam H, Kearney Jennifer A
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109-0618, USA.
J Clin Invest. 2005 Aug;115(8):2010-7. doi: 10.1172/JCI25466.
Since the first mutations of the neuronal sodium channel SCN1A were identified 5 years ago, more than 150 mutations have been described in patients with epilepsy. Many are sporadic mutations and cause loss of function, which demonstrates haploinsufficiency of SCN1A. Mutations resulting in persistent sodium current are also common. Coding variants of SCN2A, SCN8A, and SCN9A have also been identified in patients with seizures, ataxia, and sensitivity to pain, respectively. The rapid pace of discoveries suggests that sodium channel mutations are significant factors in the etiology of neurological disease and may contribute to psychiatric disorders as well.
自从5年前首次鉴定出神经元钠通道SCN1A的突变以来，已在癫痫患者中描述了150多种突变。许多是散发性突变，会导致功能丧失，这表明SCN1A存在单倍体不足。导致持续性钠电流的突变也很常见。在癫痫、共济失调和疼痛敏感患者中也分别鉴定出了SCN2A、SCN8A和SCN9A的编码变体。发现的快速进展表明，钠通道突变是神经疾病病因中的重要因素，也可能导致精神疾病。
