Abstract P-391

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1 Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975; Inserm, U975, CNRS, UMR 7225, 75013 Paris, France 2 Centre national de référence des démences rares, 75013 Paris, France 3 Université Lyon I; Centre de Neurosciences Cognitives, CNRS UMR5229; Service de Neurologie C, Hôpital Neurologique Pierre Wertheimer, 69500 Bron, Fra...

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Ion channel dysfunction causes a range of neurological disorders by altering transmembrane ion fluxes, neuronal or muscle excitability, and neurotransmitter release. Genetic neuronal channelopathies affecting peripheral axons provide a unique opportunity to examine the impact of dysfunction of a single channel subtype in detail in vivo. Episodic ataxia type 2 is caused by mutations in CACNA1A, ...

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ژورنال

عنوان ژورنال: Pediatric Critical Care Medicine

سال: 2018

ISSN: 1529-7535

DOI: 10.1097/01.pcc.0000537848.40363.be