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 Corrochano; Sara 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

doi:10.1016/j.ajhg.2016.04.008

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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38 Citas (Scopus)

Resumen

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.

Idioma original	English (US)
Páginas (desde-hasta)	1249-1255
Número de páginas	7
Publicación	American Journal of Human Genetics
Volumen	98
N.º	6
DOI	https://doi.org/10.1016/j.ajhg.2016.04.008
Estado	Published - jun 2 2016
Publicado de forma externa	Sí

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1016/j.ajhg.2016.04.008

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Madeo, M., Stewart, M., Sun, Y., Sahir, N., Wiethoff, S., Chandrasekar, I., Yarrow, A., Rosenfeld, J. A., Yang, Y., Cordeiro, D., McCormick, E. M., Muraresku, C. C., Jepperson, T. N., McBeth, L. J., Seidahmed, M. Z., El Khashab, H. Y., Hamad, M., Azzedine, H., Clark, K., ... 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

Madeo, M, Stewart, M, Sun, Y, Sahir, N, Wiethoff, S, Chandrasekar, I, Yarrow, A, Rosenfeld, JA, Yang, Y, Cordeiro, D, McCormick, EM, Muraresku, CC, Jepperson, TN, McBeth, LJ, Seidahmed, MZ, El Khashab, HY, Hamad, M, Azzedine, H, Clark, K, Corrochano, S, Wells, S, Elting, MW, Weiss, MM, Burn, S, Myers, A, Landsverk, M, Crotwell, PL, Waisfisz, Q, Wolf, NI, Nolan, PM, Padilla-Lopez, S, Houlden, H, Lifton, R, Mane, S, Singh, BB, Falk, MJ, Mercimek-Mahmutoglu, S, Bilguvar, K, Salih, MA, Acevedo-Arozena, A & Kruer, MC 2016, 'Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy', American Journal of Human Genetics, vol. 98, n.º 6, pp. 1249-1255. https://doi.org/10.1016/j.ajhg.2016.04.008

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title = "Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy",

abstract = "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.",

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

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AU - Stewart, Michelle

AU - Sun, Yuyang

AU - Sahir, Nadia

AU - Wiethoff, Sarah

AU - Chandrasekar, Indra

AU - Yarrow, Anna

AU - Rosenfeld, Jill A.

AU - Yang, Yaping

AU - Cordeiro, Dawn

AU - McCormick, Elizabeth M.

AU - Muraresku, Colleen C.

AU - Jepperson, Tyler N.

AU - McBeth, Lauren J.

AU - Seidahmed, Mohammed Zain

AU - El Khashab, Heba Y.

AU - Hamad, Muddathir

AU - Azzedine, Hamid

AU - Clark, Karl

AU - Corrochano, Silvia

AU - Wells, Sara

AU - Elting, Mariet W.

AU - Weiss, Marjan M.

AU - Burn, Sabrina

AU - Myers, Angela

AU - Landsverk, Megan

AU - Crotwell, Patricia L.

AU - Waisfisz, Quinten

AU - Wolf, Nicole I.

AU - Nolan, Patrick M.

AU - Padilla-Lopez, Sergio

AU - Houlden, Henry

AU - Lifton, Richard

AU - Mane, Shrikant

AU - Singh, Brij B.

AU - Falk, Marni J.

AU - Mercimek-Mahmutoglu, Saadet

AU - Bilguvar, Kaya

AU - Salih, Mustafa A.

AU - Acevedo-Arozena, Abraham

AU - Kruer, Michael C.

PY - 2016/6/2

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AB - 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.

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

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