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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9.
Hum Mutat. 2017.
PMID: 27864847
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
Marini C, Romoli M, Parrini E, Costa C, Mei D, Mari F, Parmeggiani L, Procopio E, Metitieri T, Cellini E, Virdò S, De Vita D, Gentile M, Prontera P, Calabresi P, Guerrini R.
Marini C, et al. Among authors: virdo s.
Neurol Genet. 2017 Dec 11;3(6):e206. doi: 10.1212/NXG.0000000000000206. eCollection 2017 Dec.
Neurol Genet. 2017.
PMID: 29264397
Free PMC article.
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Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.
Vetro A, Pisano T, Chiaro S, Procopio E, Guerra A, Parrini E, Mei D, Virdò S, Mangone G, Azzari C, Guerrini R.
Vetro A, et al. Among authors: virdo s.
Neurol Genet. 2020 Jan 2;6(1):e387. doi: 10.1212/NXG.0000000000000387. eCollection 2020 Feb.
Neurol Genet. 2020.
PMID: 32042915
Free PMC article.
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