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

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

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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, …

American journal of human genetics, Vol.98(6), pp.1249-1255

02/06/2016

DOI: https://doi.org/10.1016/j.ajhg.2016.04.008

PMCID: PMC4908178

PMID: 27236917

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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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Title: Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Creators - without role: Marianna Madeo - Sanford Research
Michelle Stewart - Medical Research Council
Yuyang Sun - University of North Dakota
Nadia Sahir - Sanford Research
Sarah Wiethoff - National Hospital for Neurology and Neurosurgery
Indra Chandrasekar - Sanford Research
Anna Yarrow - Sanford Research
Jill A. Rosenfeld - Baylor College of Medicine
Yaping Yang - Baylor College of Medicine
Dawn Cordeiro - University of Toronto
Elizabeth M. McCormick - Children's Hospital of Philadelphia
Colleen C. Muraresku - Children's Hospital of Philadelphia
Tyler N. Jepperson - Sanford Research
Lauren J. McBeth - Sanford Research
Mohammed Zain Seidahmed - Security Forces Hospital
Heba Y. El Khashab - King Saud University
Muddathir Hamad - King Saud University
Hamid Azzedine - RWTH Aachen University
Karl Clark - Mayo Clinic
Silvia Corrochano - Medical Research Council
Sara Wells - Medical Research Council
Mariet W. Elting - Amsterdam UMC Location VUmc
Marjan M. Weiss - Amsterdam UMC Location VUmc
Sabrina Burn - Sanford Research
Angela Myers - Sanford Research
Megan Landsverk - Sanford Research
Patricia L. Crotwell - Sanford Research
Quinten Waisfisz - Amsterdam UMC Location VUmc
Nicole I. Wolf - Amsterdam Neuroscience
Patrick M. Nolan - Medical Research Council
Sergio Padilla-Lopez - University of Arizona
Henry Houlden - National Hospital for Neurology and Neurosurgery
Richard Lifton - Yale School of Medicine
Shrikant Mane - Yale School of Medicine
Brij B. Singh - University of North Dakota
Marni J. Falk - Children's Hospital of Philadelphia
Saadet Mercimek-Mahmutoglu - Hospital for Sick Children
Kaya Bilguvar - Yale School of Medicine
Mustafa A. Salih - King Saud University
Abraham Acevedo-Arozena - Medical Research Council
Michael C. Kruer - Barrow Neurological Institute
Publication Details: American journal of human genetics, Vol.98(6), pp.1249-1255
Publisher: Elsevier
Number of pages: 7
Grant note: MC_UP_A390_1106 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) Sanford Seed Grant U42OD011174; U54HG006348 / NIH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA RGP-VPP-301 / Deanship of Scientific Research at King Saud University; King Saud University DE017102 / National Institute of Dental and Craniofacial Research; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Dental & Craniofacial Research (NIDCR) Retrophin Inc. CSDA2014112 / Doris Duke Charitable Foundation Clinical Scientist Development Award; American Heart Association; Doris Duke Charitable Foundation (DDCF) MC_U142684173 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC); European Commission NS083739 / NIH National Institute of Neurological Disorders and Stroke; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Neurological Disorders & Stroke (NINDS) 5U54HG006504 / NIH Centers for Mendelian Genomics; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA K08NS083739 / NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Neurological Disorders & Stroke (NINDS) U54HG006504 / NATIONAL HUMAN GENOME RESEARCH INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) NF-SI-0515-10082 / National Institute for Health Research; National Institute for Health Research (NIHR) R01DE017102 / NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Dental & Craniofacial Research (NIDCR) U42OD011174 / OFFICE OF THE DIRECTOR, NATIONAL INSTITUTES OF HEALTH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA
Identifiers: 9923791108331
Academic Unit: King Saud University
Language: English
Resource Type: Journal article