Search Results - "Striano, P"

Posterior reversible encephalopathy syndrome: The endothelial hypotheses by Marra, A, Vargas, M, Striano, P, Del Guercio, L, Buonanno, P, Servillo, G

“…Abstract Posterior reversible encephalopathy syndrome (PRES) is characterised by headache, visual disorders, seizures, altered mentation, consciousness…”
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Lamotrigine induced Brugada-pattern in a patient with genetic epilepsy associated with a novel variant in SCN9A by Banfi, P., Coll, M., Oliva, A., Alcalde, M., Striano, P., Mauri, M., Princiotta, L., Campuzano, O., Versino, M., Brugada, R.

“…•The addition of lamotrigine induce a Brugada pattern on the electrocardiogram.•SCN9A variant was responsible for the epileptic syndrome.•SCN9A might be…”
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Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review by Greco, M., Ferrara, P., Farello, G., Striano, P., Verrotti, A.

“…•1p36 terminal deletion is a recently recognized syndrome with multiple congenital anomalies and intellectual disability.•Epilepsy is a significant and…”
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Rasmussen's encephalitis: From immune pathogenesis towards targeted-therapy by Orsini, A., Foiadelli, T., Carli, N., Costagliola, G., Masini, B., Bonuccelli, A., Savasta, S., Peroni, D., Consolini, R., Striano, P.

“…•Rasmussen Encephalitis has an autoimmune pathogenesis, but the only definitive treatment is functional hemispherectomy•Agents interfering with the immune…”
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Neuroimaging Features of Biotinidase Deficiency by Biswas, A, McNamara, C, Gowda, V K, Gala, F, Sudhakar, S, Sidpra, J, Vari, M S, Striano, P, Blaser, S, Severino, M, Batzios, S, Mankad, K

“…Biotinidase deficiency is an autosomal recessive condition caused by pathogenic variants in the gene. Resultant deficiency of free biotin leads to impaired…”
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Post-traumatic stress, anxiety, and depressive symptoms in caregivers of children tested for COVID-19 in the acute phase of the Italian outbreak by Orsini, A., Corsi, M., Pedrinelli, V., Santangelo, A., Bertelloni, C., Dell’Oste, V., Cordelli, D., Perrone, A., Parini, L., Lanari, M., Massimetti, G., Bonuccelli, A., Foiadelli, T., Trabatti, C., Savasta, S., Marseglia, G., Striano, P., Peroni, D.G., Dell’Osso, L., Carmassi, C.

“…The recent COVID-19 pandemic pointed out new burdens for researchers on mental health and that evidence-based (EB) studies on vulnerable populations are timely…”
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Neuroinflammation and status epilepticus: a narrative review unraveling a complex interplay by Foiadelli, T, Santangelo, A, Costagliola, G, Costa, E, Scacciati, M, Riva, A, Volpedo, G, Smaldone, M, Bonuccelli, A, Clemente, A M, Ferretti, A, Savasta, S, Striano, P, Orsini, A

“…Status epilepticus (SE) is a medical emergency resulting from the failure of the mechanisms involved in seizure termination or from the initiation of pathways…”
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Effectiveness and tolerability of Perampanel in children and adolescents with refractory epilepsies − an Italian observational multicenter study by De Liso, P, Vigevano, F, Specchio, N, De Palma, L, Bonanni, P, Osanni, E, Coppola, G, Parisi, P, Grosso, S, Verrotti, A, Spalice, A, Nicita, F, Zamponi, N, Siliquini, S, Giordano, L, Martelli, P, Guerrini, R, Rosati, A, Ilvento, L, Belcastro, V, Striano, P, Vari, M.S, Capovilla, G, Beccari, F, Bruni, O, Luchetti, A, Gobbi, G, Russo, A, Pruna, D, Tozzi, A.E, Cusmai, R

“…Highlights • In this retrospective observational study carried out in Italy, 62 patients with refractory epilepsy of various origins (8 patients aged < 12…”
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Clinical and genetic spectrum of SCN2A-associated episodic ataxia by Schwarz, N., Bast, T., Gaily, E., Golla, G., Gorman, K.M., Griffiths, L.R., Hahn, A., Hukin, J., King, M., Korff, C., Miranda, M.J., Møller, R.S., Neubauer, B., Smith, R.A., Smol, T., Striano, P., Stroud, B., Vaccarezza, M., Kluger, G., Lerche, H., Fazeli, W.

“…Pathogenic variants in SCN2A are associated with various neurological disorders including epilepsy, autism spectrum disorder and intellectual disability. Few…”
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Reply to 'Hitting two birds with one stone: daily scheduled opiods in preventing migraine and migraine-related epilepsy (migralepsy)' by Verrotti, A., Tambucci, R., Striano, P.

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Histopathologic features of selumetinib‐induced paronychia in a child with neurofibromatosis type 1 by Borgia, P., Ferro, J., Piccolo, G., Striano, P., Vellone, V. G., Viglizzo, G., Diana, M. C.

“…We report a 4‐year‐old girl developing therapy refractory paronychia induced by selumetinib, an oral selective inhibitor of mitogen‐activated protein kinase…”
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Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal‐onset Cockayne syndrome features by Ricotti, R., Nardo, T., Striano, P., Stefanini, M., Orioli, D., Botta, E.

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Interictal and periictal headache in patients with epilepsy: migraine-triggered seizures or epilepsy-triggered headache? by Belcastro, V., Striano, P., Parisi, P.

“…Click here to view the accompanying paper in this issue…”
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations by Parrini, E., Ramazzotti, A., Dobyns, W. B., Mei, D., Moro, F., Veggiotti, P., Marini, C., Brilstra, E. H., Bernardina, B. Dalla, Goodwin, L., Bodell, A., Jones, M. C., Nangeroni, M., Palmeri, S., Said, E., Sander, J. W., Striano, P., Takahashi, Y., Van Maldergem, L., Leonardi, G., Wright, M., Walsh, C. A., Guerrini, R.

“…Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are…”
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GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy by STRIANO, P, WEBER, Y. G, POLVI, A, ROBBIANO, A, SERRATOSA, J. M, GUERRINI, R, NÜRNBERG, P, SANDER, T, ZARA, F, LERCHE, H, MARINI, C, TOLIAT, M. R, SCHUBERT, J, LEU, C, CHAIMANA, R, BAULAC, S, GUERRERO, R, LEGUERN, E, LEHESJOKI, A.-E

“…The idiopathic generalized epilepsies (IGE) are the most common genetically determined epilepsies. However, the underlying genes are largely unknown. We…”
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Electroclinical findings and long‐term outcomes in epileptic patients with inv dup (15) by Matricardi, S., Darra, F., Spalice, A., Basti, C., Fontana, E., Dalla Bernardina, B., Elia, M., Giordano, L., Accorsi, P., Cusmai, R., De Liso, P., Romeo, A., Ragona, F., Granata, T., Concolino, D., Carotenuto, M., Pavone, P., Pruna, D., Striano, P., Savasta, S., Verrotti, A.

“…Objective To define the electroclinical phenotype and long‐term outcomes in a cohort of patients with inv dup (15) syndrome. Material and Methods The…”
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An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy by STRIANO, P, COPPOLA, A, RASMINI, P, BESANA, D, COPPOLA, G. G, ELIA, M, GRANATA, T, VECCHI, M, VIGEVANO, F, VIRI, M, GAGGERO, R, STRIANO, S, PEZZELLA, M, ZARA, F, CIAMPA, C, SPECCHIO, N, RAGONA, F, MANCARDI, M. M, GENNARO, E, BECCARIA, F, CAPOVILLA, G

“…To conduct an open-label, add-on trial on safety and efficacy of levetiracetam in severe myoclonic epilepsy of infancy (SMEI). SMEI patients were recruited…”
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De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort by Pepi, C., Cesaroni, E., Striano, P., Maiorani, D., Pruna, D., Cossu, S., Di Capua, M., Vigevano, F., Specchio, N., Cusmai, R.

“…Absence Status epilepticus (AS) is a form of Non Convulsive Status Epilepticus defined as a prolonged, generalized and non-convulsive seizure, with an altered…”
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Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7 by Orsini, A., Bonuccelli, A., Striano, P., Azzara, A., Costagliola, G., Consolini, R., Peroni, D.G., Valetto, A., Bertini, V.

“…Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations…”
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Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5 -related epilepsy by Müller, A, Helbig, I, Jansen, C, Bast, T, Guerrini, R, Jähn, J, Muhle, H, Auvin, S, Korenke, G.C, Philip, S, Keimer, R, Striano, P, Wolf, N.I, Püst, B, Thiels, Ch, Fogarasi, A, Waltz, S, Kurlemann, G, Kovacevic-Preradovic, T, Ceulemans, B, Schmitt, B, Philippi, H, Tarquinio, D, Buerki, S, von Stülpnagel, C, Kluger, G

“…Abstract Objective Mutations in the CDKL5 gene cause an early-onset epileptic encephalopathy. To date, little is known about effective antiepileptic treatment…”
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