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PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

OBJECTIVE: To perform a clinical and genetic study of a family with benign familial infantile seizures (BFIS) and, upon finding a PRRT2 gene mutation, to study a cohort of probands with a similar phenotype. We extended the study to all available family members to find out whether PRRT2 mutations cos...

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Detalhes bibliográficos
Main Authors: Marini, Carla, Conti, Valerio, Mei, Davide, Battaglia, Domenica, Lettori, Donatella, Losito, Emma, Bruccini, Grazia, Tortorella, Gaetano, Guerrini, Renzo
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511926/
https://ncbi.nlm.nih.gov/pubmed/23077026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182752ca2
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