Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability

OBJECTIVE: To report new sporadic cases and 1 family with epilepsy of infancy with migrating focal seizures (EIMFSs) due to KCNT1 gain-of-function and to assess therapies' efficacy including quinidine. METHODS: We reviewed the clinical, EEG, and molecular data of 17 new patients with EIMFS and...

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Publicat a:Neurol Genet
Autors principals: Barcia, Giulia, Chemaly, Nicole, Kuchenbuch, Mathieu, Eisermann, Monika, Gobin-Limballe, Stéphanie, Ciorna, Viorica, Macaya, Alfons, Lambert, Laetitia, Dubois, Fanny, Doummar, Diane, Billette de Villemeur, Thierry, Villeneuve, Nathalie, Barthez, Marie-Anne, Nava, Caroline, Boddaert, Nathalie, Kaminska, Anna, Bahi-Buisson, Nadia, Milh, Mathieu, Auvin, Stéphane, Bonnefont, Jean-Paul, Nabbout, Rima
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6878841/
https://ncbi.nlm.nih.gov/pubmed/31872048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000363
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