Loading…
De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy
Li, T., Cheng, M., Wang, J., Hong, S., Li, M., Liao, S., Xie, L., Jiang, L.
Published in Genes, brain and behavior (01.11.2018)
Published in Genes, brain and behavior (01.11.2018)
Get full text
Journal Article
Loading…
Antiepileptic Effects of a Novel Non-invasive Neuromodulation Treatment in a Subject With Early-Onset Epileptic Encephalopathy: Case Report With 20 Sessions of HD-tDCS Intervention
Meiron, Oded, Gale, Rena, Namestnic, Julia, Bennet-Back, Odeya, Gebodh, Nigel, Esmaeilpour, Zeinab, Mandzhiyev, Vladislav, Bikson, Marom
Published in Frontiers in neuroscience (29.05.2019)
Published in Frontiers in neuroscience (29.05.2019)
Get full text
Journal Article
Loading…
Loading…
Loading…
New insights into the phenotype of FARS2 deficiency
Vantroys, Elise, Larson, Austin, Friederich, Marisa, Knight, Kaz, Swanson, Michael A., Powell, Christopher A., Smet, Joél, Vergult, Sarah, De Paepe, Boel, Seneca, Sara, Roeyers, Herbert, Menten, Björn, Minczuk, Michal, Vanlander, Arnaud, Van Hove, Johan, Van Coster, Rudy
Published in Molecular genetics and metabolism (01.12.2017)
Published in Molecular genetics and metabolism (01.12.2017)
Get full text
Journal Article
Loading…
A novel CDKL5 mutation in a 47,XXY boy with the early‐onset seizure variant of Rett syndrome
Sartori, Stefano, Di Rosa, Gabriella, Polli, Roberta, Bettella, Elisa, Tricomi, Giovanni, Tortorella, Gaetano, Murgia, Alessandra
Published in American journal of medical genetics. Part A (01.02.2009)
Published in American journal of medical genetics. Part A (01.02.2009)
Get full text
Journal Article
Loading…
Loading…
Loading…
Loading…
Highlighting the Dystonic Phenotype Related to GNAO1
Wirth, Thomas, Garone, Giacomo, Kurian, Manju A., Piton, Amélie, Millan, Francisca, Telegrafi, Aida, Drouot, Nathalie, Rudolf, Gabrielle, Chelly, Jamel, Marks, Warren, Burglen, Lydie, Demailly, Diane, Coubes, Phillipe, Castro‐Jimenez, Mayte, Joriot, Sylvie, Ghoumid, Jamal, Belin, Jérémie, Faucheux, Jean‐Marc, Blumkin, Lubov, Hull, Mariam, Parnes, Mered, Ravelli, Claudia, Poulen, Gaëtan, Calmels, Nadège, Nemeth, Andrea H., Smith, Martin, Barnicoat, Angela, Ewenczyk, Claire, Méneret, Aurélie, Roze, Emmanuel, Keren, Boris, Mignot, Cyril, Beroud, Christophe, Acosta, Fernando, Nowak, Catherine, Wilson, William G., Steel, Dora, Capuano, Alessandro, Vidailhet, Marie, Lin, Jean‐Pierre, Tranchant, Christine, Cif, Laura, Doummar, Diane, Anheim, Mathieu
Published in Movement disorders (01.07.2022)
Published in Movement disorders (01.07.2022)
Get full text
Journal Article
Loading…
Loading…
Loading…
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
Thevenon, Julien, Milh, Mathieu, Feillet, François, St-Onge, Judith, Duffourd, Yannis, Jugé, Clara, Roubertie, Agathe, Héron, Delphine, Mignot, Cyril, Raffo, Emmanuel, Isidor, Bertrand, Wahlen, Sandra, Sanlaville, Damien, Villeneuve, Nathalie, Darmency-Stamboul, Véronique, Toutain, Annick, Lefebvre, Mathilde, Chouchane, Mondher, Huet, Frédéric, Lafon, Arnaud, de Saint Martin, Anne, Lesca, Gaetan, El Chehadeh, Salima, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, Odent, Sylvie, Villard, Laurent, Philippe, Christophe, Faivre, Laurence, Rivière, Jean-Baptiste
Published in American journal of human genetics (03.07.2014)
Published in American journal of human genetics (03.07.2014)
Get full text
Journal Article
Loading…
The molecular and phenotypic spectrum of IQSEC2‐related epilepsy
Zerem, Ayelet, Haginoya, Kazuhiro, Lev, Dorit, Blumkin, Lubov, Kivity, Sara, Linder, Ilan, Shoubridge, Cheryl, Palmer, Elizabeth Emma, Field, Michael, Boyle, Jackie, Chitayat, David, Gaillard, William D., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran‐Mau‐Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, Masurel‐Paulet, Alice, Piton, Ame'lie, Kleefstra, Tjitske, Pfundt, Rolph, Sato, Ryo, Tzschach, Andreas, Matsumoto, Naomichi, Saitsu, Hirotomo, Leshinsky‐Silver, Esther, Lerman‐Sagie, Tally
Published in Epilepsia (Copenhagen) (01.11.2016)
Published in Epilepsia (Copenhagen) (01.11.2016)
Get full text
Journal Article
Loading…
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression
Rydzanicz, Małgorzata, Wachowska, Małgorzata, Cook, Erik C., Lisowski, Paweł, Kuźniewska, Bożena, Szymańska, Krystyna, Diecke, Sebastian, Prigione, Alessandro, Szczałuba, Krzysztof, Szybińska, Aleksandra, Koppolu, Agnieszka, Murcia Pienkowski, Victor, Kosińska, Joanna, Wiweger, Małgorzata, Kostrzewa, Grażyna, Brzozowska, Małgorzata, Domańska-Pakieła, Dorota, Jurkiewicz, Elżbieta, Stawiński, Piotr, Gromadka, Agnieszka, Zielenkiewicz, Piotr, Demkow, Urszula, Dziembowska, Magdalena, Kuźnicki, Jacek, Creamer, Trevor P., Płoski, Rafał
Published in European journal of human genetics : EJHG (01.01.2019)
Published in European journal of human genetics : EJHG (01.01.2019)
Get full text
Journal Article
Loading…
Loading…
CDKL5 deficiency disorder in males: Five new variants and review of the literature
Siri, Barbara, Varesio, Costanza, Freri, Elena, Darra, Francesca, Gana, Simone, Mei, Davide, Porta, Francesco, Fontana, Elena, Galati, Giulia, Solazzi, Roberta, Niceta, Marcello, Veggiotti, Pierangelo, Alfei, Enrico
Published in European journal of paediatric neurology (01.07.2021)
Published in European journal of paediatric neurology (01.07.2021)
Get full text
Journal Article
Loading…
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Almannai, Mohammed, Wang, Julia, Dai, Hongzheng, El-Hattab, Ayman W., Faqeih, Eissa A., Saleh, Mohammed A., Al Asmari, Ali, Alwadei, Ali H., Aljadhai, Yaser I., AlHashem, Amal, Tabarki, Brahim, Lines, Matthew A., Grange, Dorothy K., Benini, Ruba, Alsaman, Abdulaziz S., Mahmoud, Adel, Katsonis, Panagiotis, Lichtarge, Olivier, Wong, Lee-Jun C.
Published in Molecular genetics and metabolism (01.11.2018)
Published in Molecular genetics and metabolism (01.11.2018)
Get full text
Journal Article
Loading…
Loading…
Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome
Ortega-Moreno, L, Giráldez, B G, Verdú, A, García-Campos, O, Sánchez-Martín, G, Serratosa, J M, Guerrero-López, R
Published in Neurologia (Barcelona, Spain) (01.10.2016)
Published in Neurologia (Barcelona, Spain) (01.10.2016)
Get more information
Journal Article