Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes
Lange, Iris M., Gunning, Boudewijn, Sonsma, Anja C. M., Gemert, Lisette, Kempen, Marjan, Verbeek, Nienke E., Nicolai, Joost, Knoers, Nine V. A. M., Koeleman, Bobby P. C., Brilstra, Eva H.
Published in Epilepsia (Copenhagen) (01.06.2018)
Published in Epilepsia (Copenhagen) (01.06.2018)
Get full text
Journal Article
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H
Mulkey, Sarah B., Ben‐Zeev, Bruria, Nicolai, Joost, Carroll, John L., Grønborg, Sabine, Jiang, Yong‐hui, Joshi, Nishtha, Kelly, Megan, Koolen, David. A., Mikati, Mohamad A., Park, Kristen, Pearl, Phillip L., Scheffer, Ingrid E., Spillmann, Rebecca C., Taglialatela, Maurizio, Vieker, Silvia, Weckhuysen, Sarah, Cooper, Edward C., Cilio, Maria Roberta
Published in Epilepsia (Copenhagen) (01.03.2017)
Published in Epilepsia (Copenhagen) (01.03.2017)
Get full text
Journal Article
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
Lee, Jae-Ran, Srour, Myriam, Kim, Doyoun, Hamdan, Fadi. F., Lim, So-Hee, Brunel-Guitton, Catherine, Décarie, Jean-Claude, Rossignol, Elsa, Mitchell, Grant A., Schreiber, Allison, Moran, Rocio, Van Haren, Keith, Richardson, Randal, Nicolai, Joost, Oberndorff, Karin M.E.J., Wagner, Justin D., Boycott, Kym M., Rahikkala, Elisa, Junna, Nella, Tyynismaa, Henna, Cuppen, Inge, Verbeek, Nienke E., Stumpel, Connie T.R.M., Willemsen, Michel A., de Munnik, Sonja A., Rouleau, Guy A., Kim, Eunjoon, Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Michaud, Jacques L.
Published in Human mutation (01.01.2015)
Published in Human mutation (01.01.2015)
Get full text
Journal Article
New-Onset Seizures: A Possible Association With Clonidine?
Feron, Frans J.M., MD, PhD, Hendriksen, Jos G.M., PhD, Nicolai, Joost, MD, Vles, Johan S.H., MD, PhD
Published in Pediatric neurology (01.02.2008)
Published in Pediatric neurology (01.02.2008)
Get full text
Journal Article
Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency
Janssen, Etienne, Oosterloo, Mayke, Rubio-Gozalbo, Estela, van Gassen, Koen, Nicolai, Joost
Published in Neurology (24.02.2021)
Published in Neurology (24.02.2021)
Get more information
Journal Article
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John M E, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J, Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J H, Morrogh, Deborah, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F Lucy, Kurian, Manju A
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
Get full text
Journal Article
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
Blanchard, Maxime G, Willemsen, Marjolein H, Walker, Jaclyn B, Dib-Hajj, Sulayman D, Waxman, Stephen G, Jongmans, Marjolijn CJ, Kleefstra, Tjitske, van de Warrenburg, Bart P, Praamstra, Peter, Nicolai, Joost, Yntema, Helger G, Bindels, René JM, Meisler, Miriam H, Kamsteeg, Erik-Jan
Published in Journal of medical genetics (01.05.2015)
Published in Journal of medical genetics (01.05.2015)
Get full text
Journal Article
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability
Snoeijen‐Schouwenaars, Francesca M., van Ool, Jans S., Verhoeven, Judith S., Mierlo, Petra, Braakman, Hilde M. H., Smeets, Eric E., Nicolai, Joost, Schoots, Jeroen, Teunissen, Mariel W. A., Rouhl, Rob P. W., Tan, In Y., Yntema, Helger G., Brunner, Han G., Pfundt, Rolph, Stegmann, Alexander P., Kamsteeg, Erik‐Jan, Schelhaas, Helenius J., Willemsen, Marjolein H.
Published in Epilepsia (Copenhagen) (01.01.2019)
Published in Epilepsia (Copenhagen) (01.01.2019)
Get full text
Journal Article
The expanding clinical and genetic spectrum of DYNC1H1-related disorders
Möller, Birk, Becker, Lena-Luise, Saffari, Afshin, Afenjar, Alexandra, Coci, Emanuele G, Williamson, Rachel, Ward-Melver, Catherine, Gibaud, Marc, Sedláčková, Lucie, Laššuthová, Petra, Libá, Zuzana, Vlčková, Markéta, William, Nancy, Klee, Eric W, Gavrilova, Ralitza H, Lévy, Jonathan, Capri, Yline, Scavina, Mena, Körner, Robert Walter, Valuvullah, Zaheer, Weiß, Claudia, Möller, Greta Marit, Thiel, Moritz, Sinnema, Margje, Kamsteeg, Erik-Jan, Donkervoort, Sandra, Duboc, Veronique, Zaafrane-Khachnaoui, Khaoula, Elkhateeb, Nour, Selim, Laila, Margot, Henri, Marin, Victor, Beneteau, Claire, Isidor, Bertrand, Cogne, Benjamin, Keren, Boris, Küsters, Benno, Beggs, Alan H, Genetti, Casie A, Nicolai, Joost, Dötsch, Jörg, Koy, Anne, Bönnemann, Carsten G, von der Hagen, Maja, von Kleist-Retzow, Jürgen-Christoph, Voermans, Nicol, Jungbluth, Heinz, Dafsari, Hormos Salimi
Published in Brain (London, England : 1878) (08.06.2024)
Published in Brain (London, England : 1878) (08.06.2024)
Get full text
Journal Article
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach
Boerma, Ragna S., Braun, Kees P., van de Broek, Maarten P. H., van Berkestijn, Frederique M. C., Swinkels, Marielle E., Hagebeuk, Eveline O., Lindhout, Dick, van Kempen, Marjan, Boon, Maartje, Nicolai, Joost, de Kovel, Carolien G., Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Neurotherapeutics (01.01.2016)
Published in Neurotherapeutics (01.01.2016)
Get full text
Journal Article
Outcomes and comorbidities of SCN1A-related seizure disorders
de Lange, Iris M., Gunning, Boudewijn, Sonsma, Anja C.M., van Gemert, Lisette, van Kempen, Marjan, Verbeek, Nienke E., Sinoo, Claudia, Nicolai, Joost, Knoers, Nine V.A.M., Koeleman, Bobby P.C., Brilstra, Eva H.
Published in Epilepsy & behavior (01.01.2019)
Published in Epilepsy & behavior (01.01.2019)
Get full text
Journal Article
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
Loong, Lucy, Tardivo, Agostina, Knaus, Alexej, Hashim, Mona, Pagnamenta, Alistair T., Alt, Kerstin, Böhrer-Rabel, Helena, Caro-Llopis, Alfonso, Cole, Trevor, Distelmaier, Felix, Edery, Patrick, Ferreira, Carlos R., Jezela-Stanek, Aleksandra, Kerr, Bronwyn, Kluger, Gerhard, Krawitz, Peter M., Kuhn, Marius, Lemke, Johannes R., Lesca, Gaetan, Lynch, Sally Ann, Martinez, Francisco, Maxton, Caroline, Mierzewska, Hanna, Monfort, Sandra, Nicolai, Joost, Orellana, Carmen, Pal, Deb K., Płoski, Rafał, Quarrell, Oliver W., Rosello, Monica, Rydzanicz, Małgorzata, Sabir, Ataf, Śmigiel, Robert, Stegmann, Alexander P.A., Stewart, Helen, Stumpel, Constance, Szczepanik, Elżbieta, Tzschach, Andreas, Wolfe, Lynne, Taylor, Jenny C., Murakami, Yoshiko, Kinoshita, Taroh, Bayat, Allan, Kini, Usha
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
Get full text
Journal Article
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Bulthuis, Elianne P., Adjobo-Hermans, Merel J.W., de Potter, Bastiaan, Hoogstraten, Saskia, Wezendonk, Lisanne H.T., Tutakhel, Omar A.Z., Wintjes, Liesbeth T., van den Heuvel, Bert, Willems, Peter H.G.M., Kamsteeg, Erik-Jan, Gozalbo, M. Estela Rubio, Sallevelt, Suzanne C.E.H., Koudijs, Suzanne M., Nicolai, Joost, de Bie, Charlotte I., Hoogendijk, Jessica E., Koopman, Werner J.H., Rodenburg, Richard J.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2023)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2023)
Get full text
Journal Article