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

doi:10.1016/j.ajhg.2016.04.008

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Article

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

American journal of human genetics - 2 Jun 2016

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

Abstract excerpt

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...

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PMID: 27236917
DOI: 10.1016/j.ajhg.2016.04.008
PMCID: PMC4908178

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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