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Article Dans Une Revue Epilepsia Année : 2019

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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hal-02454871 , version 1 (24-08-2022)

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Massimo Mantegazza, Vania Broccoli. SCN 1A /Na V 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models. Epilepsia, 2019, 60 (S3), ⟨10.1111/epi.14700⟩. ⟨hal-02454871⟩
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