Periventricular nodular heterotopia

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
Elena Parrini, Davide Mei, Maria Antonietta Pisanti, Serena Catarzi, Daniela Pucatti, Claudia Bianchini, Mario Mascalchi, Enrico Bertini, Amelia Morrone, Maria Luigia Cavaliere, Renzo Guerrini

Journal of Medical Genetics Jun 2015, 52 (6) 405-412; DOI: 10.1136/jmedgenet-2014-102959

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Periventricular nodular heterotopia