21358. EPILEPSIA DE ETIOLOGÍA GENÉTICA: CARACTERIZACIÓN CLÍNICA Y NEUROFISIOLÓGICA DE PACIENTES ADULTOS EN UN HOSPITAL DE TERCER NIVEL von Arranz Horno, P., Abraira del Fresno, L., Quintana Luque, M., Campos Fernández, D., López Maza, S., Fonseca Hernández, E., Santamarina Pérez, E., Salas Puig, J., Raspall Chaure, M., Sala Coromina, J., Macaya Ruiz, A., Lasa Aranzasti, A., Tizzano, E., Toledo Argany, M.

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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants von Neuray, Caroline, Maroofian, Reza, Scala, Marcello, Sultan, Tipu, Pai, Gurpur S, Mojarrad, Majid, Khashab, Heba El, deHoll, Leigh, Yue, Wyatt, Alsaif, Hessa S, Zanetti, Maria N, Bello, Oscar, Person, Richard, Eslahi, Atieh, Khazaei, Zaynab, Feizabadi, Masoumeh H, Efthymiou, Stephanie, El-Bassyouni, Hala T, Soliman, Doaa R, Tekes, Selahattin, Ozer, Leyla, Baltaci, Volkan, Khan, Suliman, Beetz, Christian, Amr, Khalda S, Salpietro, Vincenzo, Jamshidi, Yalda, Alkuraya, Fowzan S, Houlden, Henry

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Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder von Aughey, Gabriel N, Cali, Elisa, Maroofian, Reza, Zaki, Maha S, Pagnamenta, Alistair T, Ali, Zafar, Abdulllah, Uzma, Rahman, Fatima, Menzies, Lara, Shafique, Anum, Suri, Mohnish, Roze, Emmanuel, Aguennouz, Mohammed, Ghizlane, Zouiri, Saadi, Saadia Maryam, Fatima, Ambrin, Cheema, Huma Arshad, Anjum, Muhammad Nadeem, Morel, Godelieve, Robin, Stephanie, McFarland, Robert, Altunoglu, Umut, Kraus, Verena, Shoukier, Moneef, Murphy, David, Flemming, Kristina, Yttervik, Hilde, Rhouda, Hajar, Lesca, Gaetan, Chatron, Nicolas, Rossi, Massimiliano, Murtaza, Bibi Nazia, Ur Rehman, Mujaddad, Lord, Jenny, Giacopuzzi, Edoardo, Hayat, Azam, Siraj, Muhammad, Badv, Reza Shervin, Seo, Go Hun, Beetz, Christian, Kayserili, Hülya, Krioulie, Yamna, Chung, Wendy K, Naz, Sadaf, Maqbool, Shazia, Chandler, Kate, Kershaw, Christopher, Wright, Thomas, Banka, Siddharth, Gleeson, Joseph G, Taylor, Jenny C, Efthymiou, Stephanie, Baig, Shahid Mahmood, Severino, Mariasavina, Jepson, James E C, Houlden, Henry

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P799: Electroclinical characterization of SLC2A1 mutation in three pediatric patients von Martínez de la Ossa Vela, A, Vicente Rasoamalala, M, Thonon, V, Macaya Ruíz, A, Laínez Semper, E

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EP.37Whole-body MRI pattern in pediatric patients with sarcoglycanopathies von Costa Comellas, L., Escudero Fernandez, J., Alvarez Molinero, M., Ferrer Aparicio, S., Romero Duque, P., Sanchez-Montañez, A., Gómez-Andrés, D., Macaya Ruiz, A., Munell, F.

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Clinical characteristics of migraine in childhood von Hernández Latorre, M A, Macaya Ruiz, A, Roig Quilis, M

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Outbreak of acute neurological disease associated to enterovirus in Catalonia: neuropaediatric aspects von Felipe-Rucian, A, Macaya-Ruiz, A

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Diagnòstic dels trastorns genètics de la substància blanca cerebral i identificació de noves malalties mitjançant tècniques de seqüenciació massiva von Rodríguez-Palmero Seuma, Agustí

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L'ús de corticoides en pacients pediàtrics amb patologia neurològica aguda von Areny Perelló, Berta, Universitat Autònoma de Barcelona. Facultat de Medicina

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Estudio de la malformación de Chiari 1 : correlación clínico-radiológica en la infancia e investigación de la base genética von Boronat, Susanna, Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva

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Cerebellar atrophy following acute Mycoplasma pneumoniae cerebellitis von Rosés-Noguer, F, Raspall-Chaure, M, Macaya-Ruiz, A, del Toro-Riera, M, Vázquez-Méndez, E, Roig-Quilis, M

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Subacute sclerosing panencephalitis: combined treatment with interferon alpha and intraventricular ribavirin von del Toro-Riera, M, Macaya-Ruiz, A, Raspall-Chaure, M, Tallada-Serra, M, Pasqual-López, I, Roig-Quilis, M

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Seqüenciació exòmica en l'estudi molecular de les encefalopaties epilèptiques d'inici precoç von Marcé-Grau, Anna, Universitat Autònoma de Barcelona. Institut de Neurociències

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Evolución neurológica, radiológia y cognitiva en niños nacidos con leucomalacia periventricular von Romano Berindoague, Camila

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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification von Schottlaender, Lucia V., Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’Callaghan, Benjamin, McKinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John H., Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Groppa, Stanislav, Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa, Hamed, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, McDonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick J., Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry

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Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome von Raspall-Chaure, M, Del Toro-Riera, M, Gratacós, M, Cuenca-León, E, Ferrer, I, Indo, Y, Roig-Quilis, M, Macaya-Ruiz, A

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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation von Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zamba‐Papanicolaou, Eleni, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Kernohan, Kristin D., Eaton, Alison, Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Zetterberg, Henrik, Heales, Simon J. R., Rothman, James E., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Pineda‐Marfa, Mercedes, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Boles, Richard, Giunti, Paola, Chelban, Viorica, Salpietro, Vincenzo, Efthymiou, Stephanie, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Papanicolaou, Eleni Zamba, Maqbool, Shazia, Rana, Nuzhat Noureen, Atawneh, Osama, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Dauvilliers, Yves A., Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Wahab, Kolawole, Bello, Abiodun H., Obiabo, Yahaya, Nwazor, Ernest, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Isrofilov, Maksud, Khachatryan, Samson, Silvestri, Gabriella, Bourinaris, Thomas, Fidani, Liana

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination von Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry

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A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain von Raspall-Chaure, M, Solano, A, Vázquez, E, Macaya-Ruiz, A, del Toro-Riera, M, Cabezuelo-Briones, A, Montoya, J, Andreu, A, Roig-Quilis, M

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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease von Calì, Elisa, Lin, Sheng-Jia, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, El Khorassani, Mohamed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Veggiotti, Pierangelo, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Ibrahim, Shahnaz, Kirmani, Salman, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Alkuraya, Fowzan S., Guliyeva, Ulviyya, Salayev, Kamran, Fiorillo, Chiara, Rissotto, Federico, Gagliano, Antonella, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Magrinelli, Francesca, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Kara, Majdi, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Brancati, Francesco, Di Falco, Giovanna, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Alesse, Edoardo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Parisi, Pasquale, Genomics, Queen Square, Andrea Accogli, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Nardello, Rosaria, Ognibene, Marzia, Ruggieri, Martino, Zara, Federico, Abi Warde, Marie Therese, Gerard, Benedicte, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Varshney, Gaurav, Salpietro, Vincenzo

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