Pruna D - Search Results

1

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.

Angius A, Cossu S, Uva P, Oppo M, Onano S, Persico I, Fotia G, Atzeni R, Cuccuru G, Asunis M, Cucca F, Pruna D, Crisponi L. Angius A, et al. Among authors: pruna d. Clin Genet. 2018 Jun;93(6):1245-1247. doi: 10.1111/cge.13162. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29399786

2

Satisfaction with antiepileptic drugs in children and adolescents with newly diagnosed and chronic epilepsy.

Beghi E, Messina P, Pupillo E, Crichiutti G, Baglietto MG, Veggiotti P, Zamponi N, Casellato S, Margari L, Cianchetti C; TASCA Study Group. Beghi E, et al. Epilepsy Res. 2012 Jun;100(1-2):142-51. doi: 10.1016/j.eplepsyres.2012.02.005. Epub 2012 Mar 3. Epilepsy Res. 2012. PMID: 22386633

3

The perceived burden of epilepsy: Impact on the quality of life of children and adolescents and their families.

Cianchetti C, Messina P, Pupillo E, Crichiutti G, Baglietto MG, Veggiotti P, Zamponi N, Casellato S, Margari L, Erba G, Beghi E; TASCA study group. Cianchetti C, et al. Seizure. 2015 Jan;24:93-101. doi: 10.1016/j.seizure.2014.09.003. Epub 2014 Sep 16. Seizure. 2015. PMID: 25264356 Free article.

4

An educational campaign toward epilepsy among Italian primary school teachers: 1. Survey on knowledge and attitudes.

Mecarelli O, Messina P, Capovilla G, Michelucci R, Romeo A, Beghi E; Epischool Collaborative Group of the Lega Italiana contro l'Epilessia (LICE). Mecarelli O, et al. Epilepsy Behav. 2014 Mar;32:84-91. doi: 10.1016/j.yebeh.2014.01.009. Epub 2014 Feb 9. Epilepsy Behav. 2014. PMID: 24521730

5

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.

Addis L, Sproviero W, Thomas SV, Caraballo RH, Newhouse SJ, Gomez K, Hughes E, Kinali M, McCormick D, Hannan S, Cossu S, Taylor J, Akman CI, Wolf SM, Mandelbaum DE, Gupta R, van der Spek RA, Pruna D, Pal DK. Addis L, et al. Among authors: pruna d. J Med Genet. 2018 Sep;55(9):607-616. doi: 10.1136/jmedgenet-2018-105319. Epub 2018 May 22. J Med Genet. 2018. PMID: 29789371 Free PMC article.

6

De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort.

Pepi C, Cesaroni E, Striano P, Maiorani D, Pruna D, Cossu S, Di Capua M, Vigevano F, Specchio N, Cusmai R. Pepi C, et al. Among authors: pruna d. Seizure. 2019 Dec;73:79-82. doi: 10.1016/j.seizure.2019.10.021. Epub 2019 Nov 10. Seizure. 2019. PMID: 31776058 Free article.

7

A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls.

Cursio I, Ronzano N, Asunis M, Dettori MS, Cossu S, Murru S, Cau M, Incani F, Mei D, Bianchini C, Scioni M, Pruna D. Cursio I, et al. Among authors: pruna d. Epilepsy Behav Rep. 2022 Apr 22;19:100546. doi: 10.1016/j.ebr.2022.100546. eCollection 2022. Epilepsy Behav Rep. 2022. PMID: 35637976 Free PMC article.

8

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. Among authors: pruna d. J Med Genet. 2024 Dec 31;62(1):25-31. doi: 10.1136/jmg-2024-110328. J Med Genet. 2024. PMID: 39613335 Free article.

9

Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.

Boccone L, Mariotti S, Dessì V, Pruna D, Meloni A, Loudianos G. Boccone L, et al. Among authors: pruna d. Eur J Med Genet. 2010 Nov-Dec;53(6):392-5. doi: 10.1016/j.ejmg.2010.08.001. Epub 2010 Aug 14. Eur J Med Genet. 2010. PMID: 20713192

10

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation.

Pisano T, Marini C, Brovedani P, Brizzolara D, Pruna D, Mei D, Moro F, Cianchetti C, Guerrini R. Pisano T, et al. Among authors: pruna d. Epilepsia. 2005 Jan;46(1):118-23. doi: 10.1111/j.0013-9580.2005.26304.x. Epilepsia. 2005. PMID: 15660777 Free article.

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