SCN 1A /Na V 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models
Résumé
Number of text pages 18 Number of words (summary) 184 Number of words (main text); 7620 Number of tables: 0 Number of figures: 1 SCN1A/NaV1.1 mutations are involved in different epilepsies and in familial hemiplegic migraine. We have reviewed pathological mechanisms identified with experimental models, highlighting advantages, limits and pitfalls of the models. Overall results point to NaV1.1 loss-of-function and GABAergic neurons' hypoexcitability as the initial epileptogenic mechanism. Functional effects of migraine mutations are consistent with NaV1.1 gain-of-function. Technical issues and pathophysiological remodeling generated more mechanistic complexity, which has still to be fully disentangled.
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