Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

Journal of Neurodevelopmental Disorders
Michael S SidorovBenjamin D Philpot

Abstract

Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be rigorously quantified in the clinical population or validated in a preclinical model. Here, we sought to quantitatively measure delta rhythmicity and evaluate its fidelity as a biomarker. We quantified delta oscillations in mouse and human using parallel spectral analysis methods and measured regional, state-specific, and developmental changes in delta rhythms in a patient population. Delta power was broadly increased and more dynamic in both the Angelman syndrome mouse model, relative to wild-type littermates, and in children with Angelman syndrome, relative to age-matched neurotypical controls. Enhanced delta oscillations in children with Angelman syndrome were present during wakefulness and sleep, were generalized across the neocortex, and were more pronounced at earlier ages. Delta rhythmicity phenotypes can serve as reliable biomarkers for Angelman syndrome in both preclinical and clinical settings.

References

May 1, 1987·Epilepsia·J S Duncan
Jun 1, 1988·European Journal of Pediatrics·S G BoydM A Patton
Jan 1, 1995·Brain & Development·G L CasaraV Marchiani
Nov 1, 1995·Journal of Child Neurology·F VianiV Briscioli
Jan 1, 1997·Nature Genetics·T KishinoJ Wagstaff
Feb 1, 1997·Epilepsia·L A LaanO F Brouwer
Jan 1, 1997·Annual Review of Neuroscience·D A McCormick, T Bal
Apr 18, 1998·Annals of Neurology·B A MinassianA V Delgado-Escueta
Jul 21, 1999·Brain & Development·S BuoniA Fois
Jul 31, 2003·Epilepsia·Kette D ValenteMaria J Marques-Dias
May 8, 2004·Brain & Development·Oliviero BruniMaurizio Elia
May 29, 2004·Autism : the International Journal of Research and Practice·Anegen Trillingsgaard, John R ØStergaard
Jun 29, 2004·Trends in Neurosciences·Mark F BearStephen T Warren
Jan 26, 2005·Brain & Development·Laura A E M Laan, Alla A Vein
May 20, 2005·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Mei QinCarolyn Beebe Smith
Aug 12, 2005·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·Christian M KorffDouglas R Nordli
Apr 7, 2007·Neurogenetics·Maria Teresa BonatiLidia Larizza
Mar 12, 2008·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Robert CobenRobert J Barry
Apr 28, 2009·Nature Neuroscience·Nikolaus KriegeskorteChris I Baker
Mar 2, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Judith H Miles
Aug 13, 2011·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Sarika U PetersRachel J Hundley
Dec 23, 2011·Nature·Hsien-Sung HuangBenjamin D Philpot
Feb 22, 2012·Epilepsy & Behavior : E&B·Martina VendrameSanjeev V Kothare
Apr 17, 2012·Neuron·Aubin MichalonLothar Lindemann
May 19, 2012·Nature Reviews. Neuroscience·György BuzsákiChristof Koch
Jan 9, 2013·Behavioural Brain Research·Hsien-Sung HuangSheryl S Moy
Jan 10, 2013·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·Mei QinCarolyn Beebe Smith
Mar 16, 2013·Autism Research : Official Journal of the International Society for Autism Research·Nora UrracaLawrence T Reiter
Mar 19, 2013·Pediatric Neurology·Ronald L ThibertElizabeth A Thiele
Aug 31, 2013·Journal of Autism and Developmental Disorders·Laurel Gabard-DurnamCharles A Nelson
Nov 19, 2013·European Journal of Medical Genetics·Essam Al AgeeliAlain Verloes
Jan 15, 2014·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·C J ChuS S Cash
Nov 28, 2014·American Journal of Medical Genetics. Part a·Anna M LarsonRonald L Thibert
Feb 25, 2015·Current Opinion in Neurology·Shafali S JesteSandra K Loo

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Citations

Apr 19, 2019·Clinical Dysmorphology·Farah KananiUNKNOWN DDD Study
Aug 1, 2019·Journal of Neurodevelopmental Disorders·Katherine J RocheCharles A Nelson
Dec 21, 2019·Science·Alfred Xuyang SunHyunsoo Shawn Je
Oct 24, 2018·The Journal of Clinical Investigation·Bin GuBenjamin D Philpot
Jul 21, 2017·Journal of Neurodevelopmental Disorders·Michael S SidorovBenjamin D Philpot
Mar 2, 2018·Frontiers in Genetics·Arlene J GeorgeAngela M Mabb
Jul 18, 2019·Molecular Autism·Joel FrohlichShafali S Jeste
Jun 20, 2020·Neuroscience of Consciousness·Joel FrohlichMartin M Monti
Sep 26, 2020·Journal of Pineal Research·Daniella BuonfiglioJason P DeBruyne
Jan 5, 2021·Current Opinion in Psychiatry·Helen S Heussler
Nov 19, 2020·Clinical EEG and Neuroscience·Luis A MartinezAnne E Anderson
Feb 24, 2020·Neuroscience·Diana C RotaruYpe Elgersma
May 29, 2021·Annals of Clinical and Translational Neurology·Lauren M OstrowskiCatherine J Chu
Aug 5, 2021·Molecular Autism·Vidya SaravanapandianShafali S Jeste
Mar 12, 2021·Brain : a Journal of Neurology·Joel FrohlichMartin M Monti
Sep 17, 2021·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Nycole A CoppingJill L Silverman
Jan 6, 2022·Brain and Behavior·Jameson A CosgroveAlexander D Kloth

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Methods Mentioned

BETA
antisense oligonucleotides

Clinical Trials Mentioned

NCT00296764

Software Mentioned

Xltek
EEGLAB
Logic
JMP
GraphPad Prism
Spike2
MATLAB
Bio
MATLAB scripts
SAS

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Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.