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posted on 08.11.2019 by Sara Zagaglia, Christina Selch, Jelena Nisevic Radic, Davide Mei, Zuzanna Michalak, Laura Hernandez-Hernandez, Krithika S, Katharina Vezyroglou, Sophia M. Varadkar, Alexander Pepler, Saskia Biskup, Miguel Leao, Jutta Gartner, Andreas Merkenschlanger, Michaela Jaksch, Rikke S. Moller, Elena Gardella, Britta Schlott Kristiansen, Lars Kjærsgaard Hansen, Maria Stella Vari, Katherine L. Helbig, Sonal Desai, Constance L. Smith-Hicks, Naomi Hino-Fukuyo, Tiina Talvik, Rael Laugesaar, Pilvi Ilves, Katrin Õunap, Ingrid Körber, Till Hartlieb, Manfred Kudernatsch, Peter Winkler, Mareike Schimmel, Anette Hasse, Markus Knuf, Jan Heinemeyer, Christine Makowski, Sondhya Ghedia, Gopinath M Subramanian, Pasquale Striano, Rhys Thomas, Caroline Micallef, Maria Thom, David J. Werring, Gerhard Josef Kluger, J. Helen Cross, Renzo Guerrini, Simona Balestrini, Sanjay Sisodiya
Table 1 summarizes the methods of identification of COL4A1/2 mutations in the cohort of new patients. Table 2 reports the phenotypes of previously-published patients with COL4A1/2 mutations and epilepsy. Tables 3a/b describes the clinical, EEG and brain MRI data of the new cohort of patients with COL4A1/2 mutations. Additional Method describes immunohistochemistry performed from consented surplus resected tissue from 1 case.

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http://hdl.handle.net/10255/dryad.180999

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