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Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects., Parrini, Elena, Mei Davide, Pisanti Maria Antonietta, Catarzi Serena, Pucatti Daniela, Bianchini Claudia, Mascalchi Mario, Bertini Enrico, Morrone Amelia, Cavaliere Maria Luigia, et al. , Journal of medical genetics, 2015 Jun, Volume 52, Issue 6, p.405-12, (2015) Abstract

http://www.ncbi.nlm.nih.gov/pubmed/25755106?dopt=Abstract

Early and effective treatment of KCNQ2 encephalopathy., Pisano, Tiziana, Numis Adam L., Heavin Sinéad B., Weckhuysen Sarah, Angriman Marco, Suls Arvid, Podesta Barbara, Thibert Ronald L., Shapiro Kevin A., Guerrini Renzo, et al. , Epilepsia, 2015 May, Volume 56, Issue 5, p.685-91, (2015) Abstract

http://www.ncbi.nlm.nih.gov/pubmed/25880994?dopt=Abstract