Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

273 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
The natural history of CDKL5 deficiency disorder into adulthood.
Aledo-Serrano A, Lewis-Smith D, Leonard H, Bayat A, Junaid M, Hagebeuk E, Fenger CD, Laze J, Rossi A, Trivisano M, Gonzalez-Giraldez B, Lama J, Krey I, Platzer K, Brischoux-Boucher E, Sarret C, Lomax LB, Zanus C, Musante L, Costa P, Moloney P, Delanty N, Russo A, Schönewolf-Greulich B, Bisgaard AM, Berger C, Freri E, Takahashi S, Zacher P, Jung J, Demarest S, Marsh E, Percy A, Neul J, Olson H, Swanson L, Meletti S, Cioclu MC, Ali QZ, Suller A, Beltran-Corbellini A, Gil-Nagel A, Zhang X, Previtali R, Højte AF, Specchio N, Downs J, Lesca G, Rubboli G, Andrade D, Gardella E, Pestana E, Devinsky O, Benke T, Helbig I, Thomas R, Møller RS. Aledo-Serrano A, et al. Among authors: specchio n. medRxiv [Preprint]. 2025 Jan 13:2025.01.12.24318239. doi: 10.1101/2025.01.12.24318239. medRxiv. 2025. PMID: 39867409 Free PMC article. Preprint.
Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial.
Downs J, Jacoby P, Specchio N, Cross H, Amin S, Bahi-Buisson N, Rajaraman R, Suter B, Devinsky O, Aimetti A, Busse G, Olson HE, Demarest S, Benke TA, Pestana-Knight E. Downs J, et al. Among authors: specchio n. Eur J Paediatr Neurol. 2024 Jul;51:140-146. doi: 10.1016/j.ejpn.2024.06.005. Epub 2024 Jun 17. Eur J Paediatr Neurol. 2024. PMID: 38959712 Free PMC article. Clinical Trial.
What are the epileptic encephalopathies?
Trivisano M, Specchio N. Trivisano M, et al. Among authors: specchio n. Curr Opin Neurol. 2020 Apr;33(2):179-184. doi: 10.1097/WCO.0000000000000793. Curr Opin Neurol. 2020. PMID: 32049741 Review.
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.
Amin S, Møller RS, Aledo-Serrano A, Arzimanoglou A, Bager P, Jóźwiak S, Kluger GJ, López-Cabeza S, Nabbout R, Partridge CA, Schubert-Bast S, Specchio N, Kälviäinen R. Amin S, et al. Among authors: specchio n. Epilepsia Open. 2024 Jun;9(3):832-849. doi: 10.1002/epi4.12914. Epub 2024 Mar 7. Epilepsia Open. 2024. PMID: 38450883 Free PMC article. Review.
The role of PCDH19 in refractory status epilepticus.
Trivisano M, Specchio N. Trivisano M, et al. Among authors: specchio n. Epilepsy Behav. 2019 Dec;101(Pt B):106539. doi: 10.1016/j.yebeh.2019.106539. Epub 2019 Oct 31. Epilepsy Behav. 2019. PMID: 31678000 Review.
Red flags for neuronal ceroid lipofuscinosis type 2 disease.
Trivisano M, Specchio N. Trivisano M, et al. Among authors: specchio n. Dev Med Child Neurol. 2020 Apr;62(4):414. doi: 10.1111/dmcn.14389. Epub 2019 Nov 1. Dev Med Child Neurol. 2020. PMID: 31674009 Free article. No abstract available.
Updated Genotype-Phenotype Correlations in TSC.
Curatolo P, Trivisano M, Specchio N. Curatolo P, et al. Among authors: specchio n. Semin Pediatr Neurol. 2023 Oct;47:101086. doi: 10.1016/j.spen.2023.101086. Epub 2023 Sep 18. Semin Pediatr Neurol. 2023. PMID: 37919037 Review.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Specchio N, Trivisano M, Lenge M, Ferretti A, Mei D, Parrini E, Napolitano A, Rossi-Espagnet C, Talenti G, Longo D, Proietti J, Ragona F, Freri E, Solazzi R, Granata T, Darra F, Bernardina BD, Vigevano F, Guerrini R. Specchio N, et al. Cereb Cortex. 2023 Aug 23;33(17):9709-9717. doi: 10.1093/cercor/bhad235. Cereb Cortex. 2023. PMID: 37429835 Free PMC article.
273 results