Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy von Carvill, Gemma L, Helbig, Katherine L, Myers, Candace T, Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N, Guida, Brandon S, Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A, Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O, Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G, Caruso, Paul A, Lin, Angela E, Jansen, Floor E, Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H, Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie-Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E, Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla-Lopez, Sergio, Mefford, Heather C, Kruer, Michael C

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Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy von Carvill, Gemma L., Helbig, Katherine L., Myers, Candace T., Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N., Guida, Brandon S., Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A., Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O., Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G., Caruso, Paul A., Lin, Angela E., Jansen, Floor E., Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H., Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie‐Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E., Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla‐Lopez, Sergio, Mefford, Heather C., Kruer, Michael C.

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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy von Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.

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Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency von Kruer, Michael C., Jepperson, Tyler N., Weimer, Jill M., Mroch, Amy, Davis-Keppen, Laura, Crotwell, Patricia, Parboosingh, Jillian

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Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency von Kruer, Michael C, Jepperson, Tyler N, Weimer, Jill M, Mroch, Amy, Davis-Keppen, Laura, Crotwell, Patricia, Parboosingh, Jillian

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