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Review
. 2010 Jun 1;588(Pt 11):1849-59.
doi: 10.1113/jphysiol.2010.187484. Epub 2010 Mar 1.

NaV1.1 channels and epilepsy

Affiliations
Review

NaV1.1 channels and epilepsy

William A Catterall et al. J Physiol. .

Abstract

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.

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Figures

Figure 1
Figure 1. Mutations in NaV1.1 channel patients with epilepsy
A, missense mutations (circles) and in-frame deletions (triangles). B, truncation mutations (stars). The clinical type of epilepsy is indicated by colour: GEFS+, generalized epilepsy with febrile seizures plus; SMEI, severe myoclonic epilepsy of infancy; SMEIb, borderline SMEI; ICEGTC, idiopathic childhood epilepsy with generalized tonic–clonic seizures; IS, infantile spasms; CGE, cryptogenic generalized epilepsy; CFE, cryptogenic focal epilepsy; MAE, myoclonic astatic epilepsy; SIGEI, severe idiopathic generalized epilepsy of infancy. Courtesy of M. Meisler and J. Kearney (Catterall et al. 2008).
Figure 2
Figure 2. Sodium currents from hippocampal neurons and cerebellar Purkinje cells in wild-type, heterozygous and null NaV1.1 mice
A and B, current–voltage relationships of whole-cell sodium currents from hippocampal pyramidal (A) and bipolar inhibitory neurons (B) for wild-type (circle), heterozygous (square) and homozygous (triangle) mice (Yu et al. 2006). C, action potential traces recorded from wild-type (+/+) and heterozygous (+/−) interneurons during application of 800-ms injections of depolarizing current in +10 pA increments from a holding potential of −80 mV (Kalume et al. 2007). D, sodium currents in cerebellar Purkinje neurons of WT, HET, and KO mice evoked with a series of 50 ms depolarizations from a holding potential of −90 mV to potentials ranging from −80 to + 30 mV in 5-mV increments. Inset, diagram of stimulus protocol. Scale bars: 1 ms, 2 nA. E, current–voltage relationships for WT (filled circles), HET (filled squares) and KO (open triangles) mice.
Figure 3
Figure 3. The unified loss-of-function hypothesis for NaV1.1 genetic epilepsies
Increasing severity of loss-of-function mutations of NaV1.1 channels, noted above the arrow, causes progressively more severe epilepsy syndromes from familial febrile seizures to GEFS+ and finally SMEI, noted below the arrow. Major symptoms of each syndrome are also listed.

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