Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Madeo, M., Stewart, M., Sun, Y., Sahir, N., Wiethoff, S., Chandrasekar, I., Yarrow, A., Rosenfeld, J., Yang, Y., Cordeiro, D., McCormick, E., Muraresku, C., Jepperson, T., McBeth, L., Seidahmed, M., El Khashab, H., Hamad, M., Azzedine, H., Clark, K., Corrochano, S., Wells, S., Elting, M., Weiss, M., Burn, S., Myers, A., Landsverk, M., Crotwell, P., Waisfisz, Q., Wolf, N., Nolan, P., Padilla-Lopez, S., Houlden, H., Lifton, R., Mane, S., Singh, B., Falk, M., Mercimek-Mahmutoglu, S., Bilguvar, K., Salih, M., Acevedo-Arozena, A., & Kruer, M. American Journal of Human Genetics, 2016.
abstract   bibtex   
© 2016 American Society of Human Genetics.Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to both epilepsy and hyperkinetic movement disorders. The etiology of many severe childhood movement disorders and epilepsies remains uncharacterized. We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein. Loss of FRRS1L function attenuates AMPA-mediated currents, implicating chronic abnormalities of glutamatergic neurotransmission in this monogenic neurological disease of childhood.
@article{
 title = {Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy},
 type = {article},
 year = {2016},
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 volume = {98},
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 abstract = {© 2016 American Society of Human Genetics.Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to both epilepsy and hyperkinetic movement disorders. The etiology of many severe childhood movement disorders and epilepsies remains uncharacterized. We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein. Loss of FRRS1L function attenuates AMPA-mediated currents, implicating chronic abnormalities of glutamatergic neurotransmission in this monogenic neurological disease of childhood.},
 bibtype = {article},
 author = {Madeo, M. and Stewart, M. and Sun, Y. and Sahir, N. and Wiethoff, S. and Chandrasekar, I. and Yarrow, A. and Rosenfeld, J.A. and Yang, Y. and Cordeiro, D. and McCormick, E.M. and Muraresku, C.C. and Jepperson, T.N. and McBeth, L.J. and Seidahmed, M.Z. and El Khashab, H.Y. and Hamad, M. and Azzedine, H. and Clark, K. and Corrochano, S. and Wells, S. and Elting, M.W. and Weiss, M.M. and Burn, S. and Myers, A. and Landsverk, M. and Crotwell, P.L. and Waisfisz, Q. and Wolf, N.I. and Nolan, P.M. and Padilla-Lopez, S. and Houlden, H. and Lifton, R. and Mane, S. and Singh, B.B. and Falk, M.J. and Mercimek-Mahmutoglu, S. and Bilguvar, K. and Salih, M.A. and Acevedo-Arozena, A. and Kruer, M.C.},
 journal = {American Journal of Human Genetics},
 number = {6}
}
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