Crawford DC, Acuña JM, Sherman SL. FMR1 and the fragile X syndrome: human genome epidemiology review. Genetics Med. 2001;3:359–71.

CAS  Article  Google Scholar 

Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, et al. Fragile X genotype characterized by an unstable region of DNA. Science. 1991;252:1179–81.

CAS  PubMed  Article  Google Scholar 

Darnell Jennifer C, Van Driesche SJ, Zhang C, Hung Ka Ying S, Mele A, Fraser Claire E, et al. FMRP stalls ribosomal translocation on mrnas linked to synaptic function and autism. Cell. 2011;146:247–61.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Abbeduto L, Hagerman RJ. Language and communication in fragile X syndrome. Ment Retard Dev Disabil Res Rev. 1997;3:313–22.

Article  Google Scholar 

Berry-Kravis E. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002;44:724–8.

PubMed  Article  Google Scholar 

Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, et al. Advances in the treatment of fragile X syndrome. Pediatrics. 2009;123:378–90.

PubMed  Article  Google Scholar 

Miller LJ, McIntosh DN, McGrath J, Shyu V, Lampe M, Taylor AK, et al. Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. Am J Med Genet. 1999;83:268–79.

CAS  PubMed  Article  Google Scholar 

Musumeci SA, Hagerman RJ, Ferri R, Bosco P, Bernardina BD, Tassinari CA, et al. Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia. 1999;40:1092–9.

CAS  PubMed  Article  Google Scholar 

Roberts JE, Hatton DD, Bailey DB. Development and behavior of male toddlers with fragile X syndrome. J Early Interv. 2001;24:207–23.

Article  Google Scholar 

Sabaratnam M, Vroegop PG, Gangadharan SK. Epilepsy and EEG findings in 18 males with fragile X syndrome. Seizure. 2001;10:60–3.

CAS  PubMed  Article  Google Scholar 

Sinclair D, Oranje B, Razak KA, Siegel SJ, Schmid S. Sensory processing in autism spectrum disorders and Fragile X syndrome-From the clinic to animal models. Neurosci Biobehav Rev. 2017;76(Pt B):235–53.

CAS  PubMed  Article  Google Scholar 

Van der Molen MJW, Huizinga M, Huizenga HM, Ridderinkhof KR, Van der Molen MW, Hamel BJC, et al. Profiling Fragile X Syndrome in males: strengths and weaknesses in cognitive abilities. Res Dev Disabil. 2010;31:426–39.

PubMed  Article  Google Scholar 

Wisniewski KE, Segan SM, Miezejeski CM, Sersen EA, Rudelli RD. The fra(X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities. Am J Med Genet. 1991;38:476–80.

CAS  PubMed  Article  Google Scholar 

Schmitt LM, Wang J, Pedapati EV, Thurman AJ, Abbeduto L, Erickson CA, et al. A neurophysiological model of speech production deficits in fragile X syndrome. Brain. Communications. 2020;2(1):fcz042.

Google Scholar 

Erickson CA, Kaufmann WE, Budimirovic DB, Lachiewicz A, Haas-Givler B, Miller RM, et al. Best Practices in Fragile X Syndrome Treatment Development. Brain Sci. 2018;8(12).

Castrén M, Paakkonen A, Tarkka IM, Ryynanen M, Partanen J. Augmentation of auditory N1 in children with fragile X syndrome. Brain Topogr. 2003;15(3):165–71.

PubMed  Article  Google Scholar 

Schneider A, Leigh MJ, Adams P, Nanakul R, Chechi T, Olichney J, et al. Electrocortical changes associated with minocycline treatment in fragile X syndrome. J Psychopharmacol. 2013;27(10):956–63.

CAS  PubMed  Article  Google Scholar 

Ethridge LE, De Stefano LA, Schmitt LM, Woodruff NE, Brown KL, Tran M, et al. Auditory EEG Biomarkers in Fragile X Syndrome: Clinical Relevance. Front Integr Neurosci. 2019;13:60.

PubMed  PubMed Central  Article  Google Scholar 

Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, et al. Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome. Nat Rev Drug Discov. 2018;17:280–99.

CAS  PubMed  Article  Google Scholar 

Ewen JB, Sweeney JA, Potter WZ. Conceptual, regulatory and strategic imperatives in the early days of EEG-based biomarker validation for neurodevelopmental disabilities. Front Integr Neurosci. 2019;13:45.

PubMed  PubMed Central  Article  Google Scholar 

Sahin M, Jones SR, Sweeney JA, Berry-Kravis E, Connors BW, Ewen JB, et al. Discovering translational biomarkers in neurodevelopmental disorders. Nat Rev Drug Discov. 2018.

Jonak CR, Lovelace JW, Ethell IM, Razak KA, Binder DK. Reusable multielectrode array technique for electroencephalography in awake freely moving mice. Front Integr Neurosci. 2018;12:53.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Jonak CR, Lovelace JW, Ethell IM, Razak KA, Binder DK. Multielectrode array analysis of EEG biomarkers in a mouse model of Fragile X Syndrome. Neurobiol Dis. 2020;138:104794.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Ethridge LE, White SP, Mosconi MW, Wang J, Pedapati EV, Erickson CA, et al. Neural synchronization deficits linked to cortical hyper-excitability and auditory hypersensitivity in fragile X syndrome. Mol Autism. 2017;8:22.

PubMed  PubMed Central  Article  Google Scholar 

Wang J, Ethridge LE, Mosconi MW, White SP, Binder DK, Pedapati EV, et al. A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome. J Neurodev Disord. 2017;9:11.

PubMed  PubMed Central  Article  Google Scholar 

Ethridge LE, White SP, Mosconi MW, Wang J, Byerly MJ, Sweeney JA. Reduced habituation of auditory evoked potentials indicate cortical hyper-excitability in Fragile X Syndrome. Transl Psychiatry. 2016;6:e787.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Wen TH, Lovelace JW, Ethell IM, Binder DK, Razak KA. Developmental Changes in EEG Phenotypes in a Mouse Model of Fragile X Syndrome. Neuroscience. 2019;398:126–43.

CAS  PubMed  Article  Google Scholar 

Rais M, Binder DK, Razak KA, Ethell IM. Sensory Processing Phenotypes in Fragile X Syndrome. ASN Neuro. 2018;10:1759091418801092.

PubMed  PubMed Central  Article  Google Scholar 

Lovelace JW, Ethell IM, Binder DK, Razak KA. Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome. Neurobiol Dis. 2018;115:39–48.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Gantois I, Vandesompele J, Speleman F, Reyniers E, D'Hooge R, Severijnen LA, et al. Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model. Neurobiol Dis. 2006;21(2):346–57.

CAS  PubMed  Article  Google Scholar 

Heulens I, D'Hulst C, Van Dam D, De Deyn PP, Kooy RF. Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model. Behav Brain Res. 2012;229(1):244–9.

CAS  PubMed  Article  Google Scholar 

Pacey LK, Heximer SP, Hampson DR. Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile X knockout mice to audiogenic seizures. Mol Pharmacol. 2009;76(1):18–24.

CAS  PubMed  Article  Google Scholar 

Berry-Kravis EM, Hessl D, Rathmell B, Zarevics P, Cherubini M, Walton-Bowen K, et al. Effects of STX209 (Arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, Phase 2 Trial. Sci Transl Med. 2012;4(152):152ra27.

Article  Google Scholar 

Henderson C, Wijetunge L, Kinoshita MN, Shumway M, Hammond RS, Postma FR, et al. Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen. Sci Transl Med. 2012;4(152):152ra28.

Article  Google Scholar 

Kang JY, Chadchankar J, Vien TN, Mighdoll MI, Hyde TM, Mather RJ, et al. Deficits in the activity of presynaptic gamma-aminobutyric acid type B receptors contribute to altered neuronal excitability in fragile X syndrome. J Biol Chem. 2017;292(16):6621–32.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Sinclair D, Featherstone R, Naschek M, Nam J, Du A, Wright S, et al. GABA-B agonist baclofen normalizes auditory-evoked neural oscillations and behavioral deficits in the Fmr1 knockout mouse model of fragile X syndrome. Eneuro. 2017;4 ENEURO.0380-16.2017.

Bakker CE, al. e, Verheij C, Willemsen R, Helm Rvd, Oerlemans F, et al. Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium. Cell. 1994;78(1):23-33.

Nair AB, Jacob S. A simple practice guide for dose conversion between animals and human. J Basic Clin Pharm. 2016;7(2):27–31.

PubMed  PubMed Central  Article  Google Scholar 

Jonak CR, Sandhu MS, Assad SA, Barbosa JA, Makhija M, Binder DK. Correction to: the PDE10A inhibitor TAK-063 reverses sound-evoked EEG abnormalities in a mouse model of fragile X syndrome. Neurotherapeutics. 2021;18(2):1427.

PubMed  PubMed Central  Article  Google Scholar 

Jonak CR, Sandhu MS, Assad SA, Barbosa JA, Makhija M, Binder DK. The PDE10A Inhibitor TAK-063 reverses sound-evoked EEG abnormalities in a mouse model of fragile X syndrome. Neurotherapeutics. 2021;18(2):1175–87.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Desikan RS, et al. An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest. NeuroImage. 2006;31:968–80.

PubMed  Article  Google Scholar 

Artieda J, Valencia M, Alegre M, Olaziregi O, Urrestarazu E, Iriarte J. Potentials evoked by chirp-modulated tones: a new technique to evaluate oscillatory activity in the auditory pathway. Clin Neurophysiol. 2004;115:699–709.

CAS