Specchio N - Search Results

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: specchio n. Seizure. 2024 Oct;121:141-146. doi: 10.1016/j.seizure.2024.08.012. Epub 2024 Aug 17. Seizure. 2024. PMID: 39178560

2

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM. Cannelli N, et al. Among authors: specchio n. Neurogenetics. 2006 May;7(2):111-7. doi: 10.1007/s10048-005-0024-y. Epub 2006 Mar 29. Neurogenetics. 2006. PMID: 16570191

3

Panayiotopoulos syndrome: a clinical, EEG, and neuropsychological study of 93 consecutive patients.

Specchio N, Trivisano M, Di Ciommo V, Cappelletti S, Masciarelli G, Volkov J, Fusco L, Vigevano F. Specchio N, et al. Epilepsia. 2010 Oct;51(10):2098-107. doi: 10.1111/j.1528-1167.2010.02639.x. Epub 2010 Sep 21. Epilepsia. 2010. PMID: 20528983 Free article.

4

Diagnosing photosensitive epilepsy: fancy new versus old fashioned techniques in patients with different epileptic syndromes.

Specchio N, Kasteleijn-Nolst Trenité DG, Piccioli M, Specchio LM, Trivisano M, Fusco L, Buttinelli C, Vigevano F. Specchio N, et al. Among authors: specchio lm. Brain Dev. 2011 Apr;33(4):294-300. doi: 10.1016/j.braindev.2010.06.001. Epub 2010 Jul 7. Brain Dev. 2011. PMID: 20615639

5

Idiopathic West Syndrome followed by childhood absence epilepsy.

Specchio N, Trivisano M, Vigevano F, Fusco L. Specchio N, et al. Seizure. 2010 Nov;19(9):597-601. doi: 10.1016/j.seizure.2010.07.016. Epub 2010 Aug 21. Seizure. 2010. PMID: 20729098 Free article.

6

Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome.

Specchio N, Trivisano M, Claps D, Battaglia D, Fusco L, Vigevano F. Specchio N, et al. Epilepsy Behav. 2010 Nov;19(3):383-93. doi: 10.1016/j.yebeh.2010.06.046. Epub 2010 Aug 24. Epilepsy Behav. 2010. PMID: 20797915

7

Migraine triggered by epileptic discharges in a Rasmussen's encephalitis patient after surgery.

Fusco L, Specchio N, Ciofetta G, Longo D, Trivisano M, Vigevano F. Fusco L, et al. Among authors: specchio n. Brain Dev. 2011 Aug;33(7):597-600. doi: 10.1016/j.braindev.2010.09.014. Epub 2010 Oct 23. Brain Dev. 2011. PMID: 20971589

8

Childhood refractory focal epilepsy following acute febrile encephalopathy.

Specchio N, Fusco L, Claps D, Trivisano M, Longo D, Cilio MR, Valeriani M, Cusmai R, Cappelletti S, Gentile S, Fariello G, Specchio LM, Vigevano F. Specchio N, et al. Among authors: specchio lm. Eur J Neurol. 2011 Jul;18(7):952-61. doi: 10.1111/j.1468-1331.2010.03253.x. Epub 2010 Nov 18. Eur J Neurol. 2011. PMID: 21087361

9

A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland.

Specchio N, Trivisano M, Balestri M, Gennaro E, Specchio LM, Fusco L, Zara F, Vigevano F. Specchio N, et al. Among authors: specchio lm. Acta Neurol Belg. 2010 Sep;110(3):281-3. Acta Neurol Belg. 2010. PMID: 21114141

10

Rolandic epilepsy: an uncommon presentation with leg motor seizures.

Fusco L, Trivisano M, Specchio N, Vigevano F. Fusco L, et al. Among authors: specchio n. Epilepsia. 2010 Dec;51(12):2488-91. doi: 10.1111/j.1528-1167.2010.02733.x. Epub 2010 Sep 30. Epilepsia. 2010. PMID: 21204813 Free article.

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