Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes

by Lal D., Reinthaler E.M., Dejanovic B., May P., Thiele H., Lehesjoki A.-E., Schwarz G., Riesch E., Ikram M.A., Van Duijn C.M., Uitterlinden A.G., Hofman A., Steinböck H., Gruber-Sedlmayr U., Neophytou B., Zara F., Hahn A., Gormley P., Becker F., Weber Y.G., Cilio M.R., Kunz W.S., Krause R., Zimprich F., Lemke J.R., Nürnberg P., Sander T., Lerche H., Neubauer B.A., Palotie A., Ruppert A.-K., Suls A., Siren A., Koeleman B., Haberlandt E., Ronen G.M., Caglayan H., Hjalgrim H., Muhle H., Schulz H., Helbig I., Altmüller J., Geldner J., Schubert J., Jabbari K., Everett K., Feucht M., Balestri M., Nothnagel M., Striano P., Møller R.S., Nabbout R., Balling R., Baulac S., Bianchi A., La Neve A., Minetti C., Giuseppe C.
Published 2019

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

by Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T.-T., Eio, M.Y., Narayanan, G., Utami, K.H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H.M., Gunay-Aygun, M., Muriello, M.J., Verhelst, H., Weckhuysen, S., Mahida, S., Naidu, S., Thomas, T.G., Lim, J.Y., Tan, E.S., Haye, D., Willemsen, M.A.A.P., Oegema, R., Mitchell, W.G., Pierson, T.M., Andrews, M.V., Willing, M.C., Rodan, L.H., Barakat, T.S., van Slegtenhorst, M., Gavrilova, R.H., Martinelli, D., Gilboa, T., Tamim, A.M., Hashem, M.O., AlSayed, M.D., Abdulrahim, M.M., Al-Owain, M., Awaji, A., Mahmoud, A.A.H., Faqeih, E.A., Asmari, A.A., Algain, S.M., Jad, L.A., Aldhalaan, H.M., Helbig, I., Koolen, D.A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A.Y.J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L.E., Klee, E.W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M.A., Stewart, J.C., Claridge-Chang, A., Lefeber, D.J., Alkuraya, F.S., Mathuru, A.S., Venkatesh, B., Barycki, J.J., Simpson, M.A., Jamuar, S.S., Schöls, L., Reversade, B.
Published 2021