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

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23 Scopus citations

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Medicine & Life Sciences