Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1249-1255
JournalAmerican journal of human genetics
Volume98
Issue number6
DOIs
Publication statusPublished - 2 Jun 2016

Cite this

Madeo, M., Stewart, M., Sun, Y., Sahir, N., Wiethoff, S., Chandrasekar, I., ... Kruer, M. C. (2016). Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. American journal of human genetics, 98(6), 1249-1255. https://doi.org/10.1016/j.ajhg.2016.04.008