Neurologic phenotypes associated with COL4A1 / 2 mutations: Expanding the spectrum of disease
Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S, Vezyroglou, Katharina, Varadkar, Sophia M, Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S, Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L, Desai, Sonal, Smith-Hicks, Constance L, Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M, Striano, Pasquale, Thomas, Rhys H, Micallef, Caroline, Thom, Maria, Werring, David J, Kluger, Gerhard Josef, Cross, J Helen, Guerrini, Renzo, Balestrini, Simona, Sisodiya, Sanjay M
Published in Neurology (27.11.2018)
Published in Neurology (27.11.2018)
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Seizure and cognitive outcomes after resection of glioneuronal tumors in children
Faramand, Andrew M., Barnes, Nicola, Harrison, Sue, Gunny, Roxanna, Jacques, Tom, Tahir, M Zubair, Varadkar, Sophia M., Cross, Helen J., Harkness, William, Tisdall, Martin M.
Published in Epilepsia (Copenhagen) (01.01.2018)
Published in Epilepsia (Copenhagen) (01.01.2018)
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Delineation of the movement disorders associated with FOXG1 mutations
Papandreou, Apostolos, Schneider, Ruth B, Augustine, Erika F, Ng, Joanne, Mankad, Kshitij, Meyer, Esther, McTague, Amy, Ngoh, Adeline, Hemingway, Cheryl, Robinson, Robert, Varadkar, Sophia M, Kinali, Maria, Salpietro, Vincenzo, O'Driscoll, Margaret C, Basheer, S Nigel, Webster, Richard I, Mohammad, Shekeeb S, Pula, Shpresa, McGowan, Marian, Trump, Natalie, Jenkins, Lucy, Elmslie, Frances, Scott, Richard H, Hurst, Jane A, Perez-Duenas, Belen, Paciorkowski, Alexander R, Kurian, Manju A
Published in Neurology (10.05.2016)
Published in Neurology (10.05.2016)
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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes
Reid, Emma S, Papandreou, Apostolos, Drury, Suzanne, Boustred, Christopher, Yue, Wyatt W, Wedatilake, Yehani, Beesley, Clare, Jacques, Thomas S, Anderson, Glenn, Abulhoul, Lara, Broomfield, Alex, Cleary, Maureen, Grunewald, Stephanie, Varadkar, Sophia M, Lench, Nick, Rahman, Shamima, Gissen, Paul, Clayton, Peter T, Mills, Philippa B
Published in Brain (London, England : 1878) (01.11.2016)
Published in Brain (London, England : 1878) (01.11.2016)
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COL4A1 mutations should not be a contraindication for epilepsy surgery
Papandreou, Apostolos, Tisdall, Martin M, Chong, WK, Cross, J Helen, Harkness, William F, Varadkar, Sophia M
Published in Child's nervous system (01.08.2014)
Published in Child's nervous system (01.08.2014)
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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, Clayton, Peter T.
Published in Brain (London, England : 1878) (01.05.2014)
Published in Brain (London, England : 1878) (01.05.2014)
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