Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

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

Article Language

Species

Sex

Age

Other

Search Results

460 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.
De Dominicis A, Stregapede F, Colona VL, Nicita F, Sartorelli J, Sparascio FP, Terracciano A, Novelli A, Specchio N, Bertini ES, Trivisano M. De Dominicis A, et al. Among authors: terracciano a. Seizure. 2024 Oct;121:141-146. doi: 10.1016/j.seizure.2024.08.012. Epub 2024 Aug 17. Seizure. 2024. PMID: 39178560
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM. Aiello C, et al. Among authors: terracciano a. Hum Mutat. 2009 Mar;30(3):E530-40. doi: 10.1002/humu.20975. Hum Mutat. 2009. PMID: 19177532
PRRT2 is mutated in familial and non-familial benign infantile seizures.
Specchio N, Terracciano A, Trivisano M, Cappelletti S, Claps D, Travaglini L, Cusmai R, Marras CE, Zara F, Fusco L, Bertini E, Vigevano F. Specchio N, et al. Among authors: terracciano a. Eur J Paediatr Neurol. 2013 Jan;17(1):77-81. doi: 10.1016/j.ejpn.2012.07.006. Epub 2012 Aug 17. Eur J Paediatr Neurol. 2013. PMID: 22902423
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, Ferrari A, Sicca F, Mastrangelo M, Spaccini L, Canopoli ML, Cesaroni E, Zamponi N, Caffi L, Ricciardelli P, Grosso S, Pisano T, Canevini MP, Granata T, Accorsi P, Battaglia D, Cusmai R, Vigevano F, Dalla Bernardina B, Guerrini R. Marini C, et al. Among authors: terracciano a. Epilepsia. 2012 Dec;53(12):2111-9. doi: 10.1111/j.1528-1167.2012.03649.x. Epub 2012 Sep 4. Epilepsia. 2012. PMID: 22946748 Free article.
Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.
Pontrelli G, Cappelletti S, Claps D, Sirleto P, Ciocca L, Petrocchi S, Terracciano A, Serino D, Fusco L, Vigevano F, Specchio N. Pontrelli G, et al. Among authors: terracciano a. Pediatr Neurol. 2014 May;50(5):530-5. doi: 10.1016/j.pediatrneurol.2014.01.022. Epub 2014 Jan 11. Pediatr Neurol. 2014. PMID: 24731847 Review.
Cognitive development in females with PCDH19 gene-related epilepsy.
Cappelletti S, Specchio N, Moavero R, Terracciano A, Trivisano M, Pontrelli G, Gentile S, Vigevano F, Cusmai R. Cappelletti S, et al. Among authors: terracciano a. Epilepsy Behav. 2015 Jan;42:36-40. doi: 10.1016/j.yebeh.2014.10.019. Epub 2014 Dec 11. Epilepsy Behav. 2015. PMID: 25499160
460 results