University of Washington, Department of Pharmacology, SJ-30, Seattle, WA 98195-7280, USA.
J Physiol. 2010 Jun 1;588(Pt 11):1849-59. doi: 10.1113/jphysiol.2010.187484. Epub 2010 Mar 1.
Voltage-gated sodium channels initiate action potentials in brain neurons, and sodium channel blockers are used in therapy of epilepsy. Mutations in sodium channels are responsible for genetic epilepsy syndromes with a wide range of severity, and the NaV1.1 channel encoded by the SCN1A gene is the most frequent target of mutations. Complete loss-of-function mutations in NaV1.1 cause severe myoclonic epilepsy of infancy (SMEI or Dravet's Syndrome), which includes severe, intractable epilepsy and comorbidities of ataxia and cognitive impairment. Mice with loss-of-function mutations in NaV1.1 channels have severely impaired sodium currents and action potential firing in hippocampal GABAergic inhibitory neurons without detectable effect on the excitatory pyramidal neurons, which would cause hyperexcitability and contribute to seizures in SMEI. Similarly, the sodium currents and action potential firing are also impaired in the GABAergic Purkinje neurons of the cerebellum, which is likely to contribute to ataxia. The imbalance between excitatory and inhibitory transmission in these mice can be partially corrected by compensatory loss-of-function mutations of NaV1.6 channels, and thermally induced seizures in these mice can be prevented by drug combinations that enhance GABAergic neurotransmission. Generalized epilepsy with febrile seizures plus (GEFS+) is caused by missense mutations in NaV1.1 channels, which have variable biophysical effects on sodium channels expressed in non-neuronal cells, but may primarily cause loss of function when expressed in mice. Familial febrile seizures is caused by mild loss-of-function mutations in NaV1.1 channels; mutations in these channels are implicated in febrile seizures associated with vaccination; and impaired alternative splicing of the mRNA encoding these channels may also predispose some children to febrile seizures. We propose a unified loss-of-function hypothesis for the spectrum of epilepsy syndromes caused by genetic changes in NaV1.1 channels, in which mild impairment predisposes to febrile seizures, intermediate impairment leads to GEFS+ epilepsy, and severe or complete loss of function leads to the intractable seizures and comorbidities of SMEI.
电压门控钠离子通道在脑神经元中引发动作电位,钠离子通道阻滞剂被用于癫痫治疗。钠离子通道突变是多种严重程度遗传癫痫综合征的原因,由 SCN1A 基因编码的 NaV1.1 通道是突变的最常见靶点。NaV1.1 完全失活突变导致严重婴儿肌阵挛性癫痫(SMEI 或 Dravet 综合征),包括严重、难治性癫痫和共济失调及认知障碍等共病。NaV1.1 通道功能丧失突变的小鼠在海马 GABA 能抑制性神经元中钠离子电流和动作电位放电严重受损,而对兴奋性锥体神经元无明显影响,这将导致 SMEI 中的过度兴奋和癫痫发作。同样,小脑 GABA 能浦肯野神经元中的钠离子电流和动作电位放电也受损,这可能导致共济失调。这些小鼠中兴奋性和抑制性传递的不平衡可以通过 NaV1.6 通道的代偿性功能丧失突变部分纠正,并且可以通过增强 GABA 能神经传递的药物组合来预防这些小鼠的热诱导性癫痫发作。热性惊厥附加综合征(GEFS+)是由 NaV1.1 通道的错义突变引起的,这些突变对非神经元细胞表达的钠离子通道具有不同的生物物理影响,但在小鼠中表达时可能主要导致功能丧失。家族性热性惊厥是由 NaV1.1 通道的轻度功能丧失突变引起的;这些通道的突变与与疫苗接种相关的热性惊厥有关;这些通道编码 mRNA 的可变剪接也可能使一些儿童易发生热性惊厥。我们提出了一个统一的功能丧失假说,用于解释由 NaV1.1 通道遗传变化引起的癫痫综合征谱,其中轻度损害易发生热性惊厥,中度损害导致 GEFS+癫痫,严重或完全丧失功能导致难治性癫痫和 SMEI 的共病。
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