De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
Suls, Arvid, Jaehn, Johanna A., Kecskés, Angela, Weber, Yvonne, Weckhuysen, Sarah, Craiu, Dana C., Siekierska, Aleksandra, Djémié, Tania, Afrikanova, Tatiana, Gormley, Padhraig, von Spiczak, Sarah, Kluger, Gerhard, Iliescu, Catrinel M., Talvik, Tiina, Talvik, Inga, Meral, Cihan, Caglayan, Hande S., Giraldez, Beatriz G., Serratosa, José, Lemke, Johannes R., Hoffman-Zacharska, Dorota, Szczepanik, Elzbieta, Barisic, Nina, Komarek, Vladimir, Hjalgrim, Helle, Møller, Rikke S., Linnankivi, Tarja, Dimova, Petia, Striano, Pasquale, Zara, Federico, Marini, Carla, Guerrini, Renzo, Depienne, Christel, Baulac, Stéphanie, Kuhlenbäumer, Gregor, Crawford, Alexander D., Lehesjoki, Anna-Elina, de Witte, Peter A.M., Palotie, Aarno, Lerche, Holger, Esguerra, Camila V., De Jonghe, Peter, Helbig, Ingo, Hendrickx, Rik, Holmgren, Philip, Stephani, Ulrich, Muhle, Hiltrud, Pendiziwiat, Manuela, Appenzeller, Silke, Selmer, Kaja, Brilstra, Eva, Koeleman, Bobby, Rosenow, Felix, Leguern, Eric, Sterbova, Katalin, Magdalena, Budisteanu, Rodica, Gherghiceanu, Arsene, Oana Tarta, Diana, Barca, Guerrero-Lopez, Rosa, Ortega, Laura, Todorova, Albena P., Kirov, Andrey V., Robbiano, Angela, Arslan, Mutluay, Yiş, Uluç, Ivanović, Vanja
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Co‐occurring malformations of cortical development and SCN1A gene mutations
Barba, Carmen, Parrini, Elena, Coras, Roland, Galuppi, Anna, Craiu, Dana, Kluger, Gerhard, Parmeggiani, Antonia, Pieper, Tom, Schmitt‐Mechelke, Thomas, Striano, Pasquale, Giordano, Flavio, Blumcke, Ingmar, Guerrini, Renzo
Published in Epilepsia (Copenhagen) (01.07.2014)
Published in Epilepsia (Copenhagen) (01.07.2014)
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Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
Lal, Dennis, May, Patrick, Perez-Palma, Eduardo, Samocha, Kaitlin E, Kosmicki, Jack A, Robinson, Elise B, Møller, Rikke S, Krause, Roland, Nürnberg, Peter, Weckhuysen, Sarah, De Jonghe, Peter, Guerrini, Renzo, Niestroj, Lisa M, Du, Juliana, Marini, Carla, Ware, James S, Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A, Koeleman, Bobby P C, Helbig, Katherine L, Weber, Yvonne G, Helbig, Ingo, Majithia, Amit R, Palotie, Aarno, Daly, Mark J
Published in Genome medicine (17.03.2020)
Published in Genome medicine (17.03.2020)
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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer
Published in Human molecular genetics (15.04.2015)
Published in Human molecular genetics (15.04.2015)
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Practical clues for diagnosing WWOX encephalopathy
Tarta‐Arsene, Oana, Barca, Diana, Craiu, Dana, Iliescu, Catrinel
Published in Epileptic disorders (01.09.2017)
Published in Epileptic disorders (01.09.2017)
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R
Published in Nature genetics (01.04.2015)
Published in Nature genetics (01.04.2015)
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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy
Dejanovic, Borislav, Djémié, Tania, Grünewald, Nora, Suls, Arvid, Kress, Vanessa, Hetsch, Florian, Craiu, Dana, Zemel, Matthew, Gormley, Padhraig, Lal, Dennis, Myers, Candace T, Mefford, Heather C, Palotie, Aarno, Helbig, Ingo, Meier, Jochen C, De Jonghe, Peter, Weckhuysen, Sarah, Schwarz, Guenter
Published in EMBO molecular medicine (01.12.2015)
Published in EMBO molecular medicine (01.12.2015)
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Fatal Status Epilepticus in Dravet Syndrome
Liso, Paola De, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
Published in Brain sciences (01.11.2020)
Published in Brain sciences (01.11.2020)
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Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10, 889”
De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
Published in Brain sciences (18.06.2021)
Published in Brain sciences (18.06.2021)
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Analysis of the Phenotypes in the Rett Networked Database
Frullanti, Elisa, Papa, Filomena T., Grillo, Elisa, Clarke, Angus, Ben-Zeev, Bruria, Pineda, Mercedes, Bahi-Buisson, Nadia, Bienvenu, Thierry, Armstrong, Judith, Roche Martinez, Ana, Mari, Francesca, Nissenkorn, Andreea, Lo Rizzo, Caterina, Veneselli, Edvige, Russo, Silvia, Vignoli, Aglaia, Pini, Giorgio, Djuric, Milena, Bisgaard, Anne-Marie, Ravn, Kirstine, Bosnjak, Vlatka Mejaski, Hayek, Joussef, Khajuria, Rajni, Montomoli, Barbara, Cogliati, Francesca, Pintaudi, Maria, Hadzsiev, Kinga, Craiu, Dana, Voinova, Victoria, Djukic, Aleksandra, Villard, Laurent, Renieri, Alessandra
Published in International journal of genomics (01.01.2019)
Published in International journal of genomics (01.01.2019)
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EPILEPTIC SEIZURE TRIGGERS IN CHILDREN FROM ROMANIA
Arbune, Anca Adriana, Arsene, Oana Tarta, Brinduse, Lacramioara, Craiu, Dana
Published in Romanian journal of neurology (30.06.2016)
Published in Romanian journal of neurology (30.06.2016)
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Is there an encephalographic trait to septo-optic dysplasia? (de Morsier syndrome)
Tarta-Arsene, Oana, Leanca, Madalina, Gandea, Mona, Craiu, Dana
Published in Romanian journal of neurology (30.06.2014)
Published in Romanian journal of neurology (30.06.2014)
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Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial
van Arnhem, Marleen M L, van den Munckhof, Bart, Arzimanoglou, Alexis, Perucca, Emilio, Metsähonkala, Liisa, Rubboli, Guido, Søndergaard Khinchi, Marianne, de Saint-Martin, Anne, Klotz, Kerstin A, Jacobs, Julia, Cross, J Helen, Garcia Morales, Irene, Otte, Wim M, van Teeseling, Heleen C, Leijten, Frans S S, Braun, Kees P J, Jansen, Floor E, Jansen, Anna, Lagae, Lieven, Bast, Thomas, von Spiczak, Sarah, Kluger, Gerhard, van Bogaert, Patrick, Gaily, Eija, Baer, Sarah, Auvin, Stéphane, Chin, Richard, Zuberi, Sameer, Dimova, Petia, Craiu, C Dana, Veggiotti, Pierangelo, Ramantani, Georgia
Published in Lancet neurology (01.02.2024)
Published in Lancet neurology (01.02.2024)
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Hippocampal sclerosis – cause or consequence of mesial temporal lobe epilepsy in children?
Albeanu, Adriana Gabriela, Magureanu, Sanda, Craiu, Dana, Lagae, Lieven
Published in Romanian journal of neurology (31.03.2012)
Published in Romanian journal of neurology (31.03.2012)
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Aspects of epileptic seizures in children with neurofibromatosis type 1
Tarta-Arsene, Oana, Barca, Diana, Burloiu, Carmen, Craiu, Dana, Stoian, Daniela, Leanca, Madalina, Magureanu, Sanda
Published in Romanian journal of neurology (30.06.2013)
Published in Romanian journal of neurology (30.06.2013)
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