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PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Published in:
Neurological Sciences, 2023, v. 44, n. 6, p. 2173, doi. 10.1007/s10072-023-06735-7
By:
- Cossu, Alberto;
- Santos, Joana L.;
- Galati, Giulia;
- Nikanorova, Marina;
- Costa, Paola;
- Mang, Yuan;
- Silahtaroglu, Asli;
- Rubboli, Guido;
- Tommerup, Niels;
- Dalla Bernardina, Bernardo;
- Møller, Rikke S.;
- Cantalupo, Gaetano;
- Gardella, Elena
Publication type:
Article
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Published in:
Epilepsia (Series 4), 2015, v. 56, n. 12, p. e203, doi. 10.1111/epi.13222
By:
- Larsen, Jan;
- Johannesen, Katrine Marie;
- Ek, Jakob;
- Tang, Shan;
- Marini, Carla;
- Blichfeldt, Susanne;
- Kibæk, Maria;
- Spiczak, Sarah;
- Weckhuysen, Sarah;
- Frangu, Mimoza;
- Neubauer, Bernd Axel;
- Uldall, Peter;
- Striano, Pasquale;
- Zara, Federico;
- Kleiss, Rebecca;
- Simpson, Michael;
- Muhle, Hiltrud;
- Nikanorova, Marina;
- Jepsen, Birgit;
- Tommerup, Niels
Publication type:
Article
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 12, p. e190, doi. 10.1111/j.1528-1167.2011.03304.x
By:
- Klitten, Laura L.;
- Møller, Rikke S.;
- Nikanorova, Marina;
- Silahtaroglu, Asli;
- Hjalgrim, Helle;
- Tommerup, Niels
Publication type:
Article
Ketogenic diet in the treatment of refractory continuous spikes and waves during slow sleep.
Published in:
Epilepsia (Series 4), 2009, v. 50, n. 5, p. 1127, doi. 10.1111/j.1528-1167.2008.01958.x
By:
- Nikanorova, Marina;
- Miranda, Maria J.;
- Atkins, Mary;
- Sahlholdt, Lene
Publication type:
Article
Review of clinical studies of perampanel in adolescent patients.
Published in:
Brain & Behavior, 2016, v. 6, n. 9, p. n/a, doi. 10.1002/brb3.505
By:
- Kim, Heung Dong;
- Chi, Ching‐Shiang;
- Desudchit, Tayard;
- Nikanorova, Marina;
- Visudtibhan, Anannit;
- Nabangchang, Charcrin;
- Chan, Derrick W. S.;
- Fong, Choong Yi;
- Chang, Kai‐Ping;
- Kwan, Shang‐Yeong;
- Reyes, Fe De Los;
- Huang, Chao‐Ching;
- Likasitwattanakul, Surachai;
- Lee, Wang‐Tso;
- Yung, Ada;
- Dash, Amitabh
Publication type:
Article
Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs: A retrospective and observational real‐world study.
Published in:
Epilepsia Open, 2024, v. 9, n. 5, p. 1891, doi. 10.1002/epi4.13029
By:
- Gjerulfsen, Cathrine E.;
- Nikanorova, Marina;
- Olofsson, Kern;
- Johannessen Landmark, Cecilie;
- Rubboli, Guido;
- Møller, Rikke S.
Publication type:
Article
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo‐controlled clinical trial.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 10, p. 2653, doi. 10.1111/epi.17737
By:
- Sullivan, Joseph;
- Lagae, Lieven;
- Cross, J. Helen;
- Devinsky, Orrin;
- Guerrini, Renzo;
- Knupp, Kelly G.;
- Laux, Linda;
- Nikanorova, Marina;
- Polster, Tilman;
- Talwar, Dinesh;
- Ceulemans, Berten;
- Nabbout, Rima;
- Farfel, Gail M.;
- Galer, Bradley S.;
- Gammaitoni, Arnold R.;
- Lock, Michael;
- Agarwal, Anupam;
- Scheffer, Ingrid E.;
- Gill, Deepak;
- Riney, Kate
Publication type:
Article
Testing association of rare genetic variants with resistance to three common antiseizure medications.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 4, p. 657, doi. 10.1111/epi.16467
By:
- Wolking, Stefan;
- Moreau, Claudia;
- Nies, Anne T.;
- Schaeffeler, Elke;
- McCormack, Mark;
- Auce, Pauls;
- Avbersek, Andreja;
- Becker, Felicitas;
- Krenn, Martin;
- Møller, Rikke S.;
- Nikanorova, Marina;
- Weber, Yvonne G.;
- Weckhuysen, Sarah;
- Cavalleri, Gianpiero L.;
- Delanty, Norman;
- Depondt, Chantal;
- Johnson, Michael R.;
- Koeleman, Bobby P.C.;
- Kunz, Wolfram S.;
- Marson, Anthony G.
Publication type:
Article
Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy.
Published in:
Epilepsia (Series 4), 2017, v. 58, n. 7, p. 1227, doi. 10.1111/epi.13777
By:
- Berghuis, Bianca;
- Palen, Job;
- Haan, Gerrit‐Jan;
- Lindhout, Dick;
- Koeleman, Bobby P. C.;
- Sander, Josemir W.;
- Møller, Rikke S.;
- Nikanorova, Marina;
- Ingason, Andrés;
- Depondt, Chantal;
- Johnson, Michael R;
- Langley, Sarah R.;
- Klein, Karl Martin;
- McCormack, Mark;
- Delanty, Norman;
- Cavalleri, Gianpiero L.;
- Zijl, Janic;
- Muhle, Hiltrud;
- Borghei, Mojgansadat;
- Donatello, Simona
Publication type:
Article
Encephalopathy with status epilepticus during sleep (ESES) induced by oxcarbazepine in idiopathic focal epilepsy in childhood.
Published in:
Functional Neurology, 2015, v. 30, n. 2, p. 139
By:
- Pavlidis, Elena;
- Rubboli, Guido;
- Nikanorova, Marina;
- Kölmel, Margarethe Sophie;
- Gardella, Elena
Publication type:
Article

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