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Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Malerba F, Alberini G, Balagura G, Marchese F, Amadori E, Riva A, Vari MS, Gennaro E, Madia F, Salpietro V, Angriman M, Giordano L, Accorsi P, Trivisano M, Specchio N, Russo A, Gobbi G, Raviglione F, Pisano T, Marini C, Mancardi MM, Nobili L, Freri E, Castellotti B, Capovilla G, Coppola A, Verrotti A, Martelli P, Miceli F, Maragliano L, Benfenati F, Cilio MR, Johannesen KM, Møller RS, Ceulemans B, Minetti C, Weckhuysen S, Zara F, Taglialatela M, Striano P. Malerba F, et al. Among authors: benfenati f. Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659638 Free PMC article.
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F. Falace A, et al. Among authors: benfenati f. Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727515 Free PMC article.
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Fruscione F, Valente P, Sterlini B, Romei A, Baldassari S, Fadda M, Prestigio C, Giansante G, Sartorelli J, Rossi P, Rubio A, Gambardella A, Nieus T, Broccoli V, Fassio A, Baldelli P, Corradi A, Zara F, Benfenati F. Fruscione F, et al. Among authors: benfenati f. Brain. 2018 Apr 1;141(4):1000-1016. doi: 10.1093/brain/awy051. Brain. 2018. PMID: 29554219 Free PMC article.
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group; Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R. Fassio A, et al. Among authors: benfenati f. Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092. Brain. 2018. PMID: 29668857 Free PMC article.
447 results