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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 E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R. Parrini E, et al. Among authors: guerrini r. J Med Genet. 2015 Jun;52(6):405-12. doi: 10.1136/jmedgenet-2014-102959. Epub 2015 Mar 9. J Med Genet. 2015. PMID: 25755106
Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. Leeflang EP, et al. Among authors: guerrini r. J Med Genet. 2003 Dec;40(12):e128. doi: 10.1136/jmg.40.12.e128. J Med Genet. 2003. PMID: 14684696 Free PMC article. No abstract available.
1,131 results