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Letter to the Editor Regarding the Article "Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy".
Vetri L, Calì F, Vinci M, Amato C, Roccella M, Granata T, Freri E, Solazzi R, Romano V, Elia M. Vetri L, et al. Among authors: amato c. Neuropediatrics. 2021 Apr;52(2):153. doi: 10.1055/s-0040-1716904. Epub 2020 Oct 27. Neuropediatrics. 2021. PMID: 33111300 No abstract available.
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calì F, Greco D, Amato C, Romano C, Elia M. Fichera M, et al. Among authors: amato c. Hum Genet. 2019 Feb;138(2):187-198. doi: 10.1007/s00439-019-01972-3. Epub 2019 Jan 17. Hum Genet. 2019. PMID: 30656450 Clinical Trial.
Tuberous sclerosis underlying neonatal poliosis.
Schepis C, Siragusa M, Puzzo A, Amato C, Elia M. Schepis C, et al. Among authors: amato c. J Eur Acad Dermatol Venereol. 2015 Apr;29(4):822-3. doi: 10.1111/jdv.12427. Epub 2014 Mar 5. J Eur Acad Dermatol Venereol. 2015. PMID: 24593831 No abstract available.
Nervous system involvement in Degos disease.
Amato C, Ferri R, Elia M, Cosentino F, Schepis C, Siragusa M, Moschini M. Amato C, et al. AJNR Am J Neuroradiol. 2005 Mar;26(3):646-9. AJNR Am J Neuroradiol. 2005. PMID: 15760880 Free PMC article.
456 results