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Unilateral Lisch nodules in a pediatric patient: a sign for genetic mosaicism?
Orsini A, Santangelo A, Bonuccelli A, Ragone MC, Foiadelli T, Savasta S, Madia F, Peroni D, Striano P. Orsini A, et al. Among authors: striano p. Minerva Pediatr (Torino). 2023 Feb;75(1):137-139. doi: 10.23736/S2724-5276.20.06134-4. Epub 2020 Nov 17. Minerva Pediatr (Torino). 2023. PMID: 33203204 No abstract available.
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F. Mancardi MM, et al. Among authors: striano p. Epilepsia. 2006 Oct;47(10):1629-35. doi: 10.1111/j.1528-1167.2006.00641.x. Epilepsia. 2006. PMID: 17054684 Free article.
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F. Falace A, et al. Among authors: striano p. Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727515 Free PMC article.
Epilepsy in patients with Cornelia de Lange syndrome: a clinical series.
Verrotti A, Agostinelli S, Prezioso G, Coppola G, Capovilla G, Romeo A, Striano P, Parisi P, Grosso S, Spalice A, Foiadelli T, Curatolo P, Chiarelli F, Savasta S. Verrotti A, et al. Among authors: striano p. Seizure. 2013 Jun;22(5):356-9. doi: 10.1016/j.seizure.2013.01.017. Epub 2013 Mar 7. Seizure. 2013. PMID: 23473710 Free article.
Recent advances in epilepsy genetics.
Orsini A, Zara F, Striano P. Orsini A, et al. Among authors: striano p. Neurosci Lett. 2018 Feb 22;667:4-9. doi: 10.1016/j.neulet.2017.05.014. Epub 2017 May 10. Neurosci Lett. 2018. PMID: 28499889 Review.
859 results