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KCNQ2 encephalopathy: A case due to a de novo deletion.
Spagnoli C, Salerno GG, Iodice A, Frattini D, Pisani F, Fusco C. Spagnoli C, et al. Among authors: frattini d. Brain Dev. 2018 Jan;40(1):65-68. doi: 10.1016/j.braindev.2017.06.008. Epub 2017 Jul 17. Brain Dev. 2018. PMID: 28728838
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: frattini d. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409
Long-term follow-up in infantile-onset SCAR18: A case report.
Iodice A, Spagnoli C, Cangini M, Soliani L, Rizzi S, Salerno GG, Frattini D, Pisani F, Fusco C. Iodice A, et al. Among authors: frattini d. J Clin Neurosci. 2020 Jul;77:232-234. doi: 10.1016/j.jocn.2020.05.008. Epub 2020 May 6. J Clin Neurosci. 2020. PMID: 32387255
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