Madeo, M; Stewart, M; Sun, Y; Sahir, N; Wiethoff, S; Chandrasekar, I; Yarrow, A; ... Kruer, MC; + view all 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; - view fewer (2016) Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. American Journal of Human Genetics , 98 (6) pp. 1249-1255. 10.1016/j.ajhg.2016.04.008.

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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.

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