Angelman H: ‘Puppet’ children a report on three cases. Dev Med Child Neurol. 1965, 7 (6): 681-688. 10.1111/j.1469-8749.1965.tb07844.x.
Article
Google Scholar
Barry RJ, Leitner RP, Clarke AR, Einfeld SL: Behavioral aspects of Angelman syndrome: a case control study. Am J Med Genet A. 2005, 132A (1): 8-12. 10.1002/ajmg.a.30154.
Article
PubMed
Google Scholar
Williams CA: Neurological aspects of the Angelman syndrome. Brain Dev. 2005, 27 (2): 88-94. 10.1016/j.braindev.2003.09.014.
Article
PubMed
Google Scholar
Horsler K, Oliver C: The behavioural phenotype of Angelman syndrome. J Intellect Disabil Res. 2006, 50 (Pt 1): 33-53. 10.1111/j.1365-2788.2005.00730.x.
Article
CAS
PubMed
Google Scholar
Williams CA: The behavioral phenotype of the Angelman syndrome. Am J Med Genet C: Semin Med Genet. 2010, 154C (4): 432-437. 10.1002/ajmg.c.30278.
Article
Google Scholar
Pelc K, Cheron G, Dan B: Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsychiatr Dis Treat. 2008, 4 (3): 577-
PubMed
PubMed Central
Google Scholar
Clayton-Smith J, Laan L: Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet. 2003, 40 (2): 87-95. 10.1136/jmg.40.2.87.
Article
CAS
PubMed
PubMed Central
Google Scholar
Boyd SG, Harden A, Patton MA: The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr. 1988, 147 (5): 508-513. 10.1007/BF00441976.
Article
CAS
PubMed
Google Scholar
Laan LA, Renier WO, Arts WF, Buntinx IM, Vd Burgt IJ, Stroink H, Beuten J, Zwinderman KH, van Dijk JG, Brouwer OF: Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia. 1997, 38 (2): 195-199. 10.1111/j.1528-1157.1997.tb01097.x.
Article
CAS
PubMed
Google Scholar
Laan LA, Vein AA: Angelman syndrome: is there a characteristic EEG?. Brain Dev. 2005, 27 (2): 80-87. 10.1016/j.braindev.2003.09.013.
Article
PubMed
Google Scholar
Vendrame M, Loddenkemper T, Zarowski M, Gregas M, Shuhaiber H, Sarco DP, Morales A, Nespeca M, Sharpe C, Haas K, Barnes G, Glaze D, Kothare SV: Analysis of EEG patterns and genotypes in patients with Angelman syndrome. Epilepsy Behav. 2012, 23 (3): 261-265. 10.1016/j.yebeh.2011.11.027.
Article
PubMed
Google Scholar
Pelc K, Boyd SG, Cheron G, Dan B: Epilepsy in Angelman syndrome. Seizure. 2008, 17 (3): 211-217. 10.1016/j.seizure.2007.08.004.
Article
PubMed
Google Scholar
Williams C: Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP. J Child Neurol. 2009, 24 (7): 904-908. 10.1177/0883073809332767.
Article
PubMed
Google Scholar
Kishino T, Lalande M, Wagstaff J: UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet. 1997, 15 (1): 70-73. 10.1038/ng0197-70.
Article
CAS
PubMed
Google Scholar
Margolis SS, Salogiannis J, Lipton DM, Mandel-Brehm C, Wills ZP, Mardinly AR, Hu L, Greer PL, Bikoff JB, Ho HY, Soskis MJ, Sahin M, Greenberg ME: EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. Cell. 2010, 143 (3): 442-455. 10.1016/j.cell.2010.09.038.
Article
CAS
PubMed
PubMed Central
Google Scholar
Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL: The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet. 2008, 17 (1): 111-118. 10.1093/hmg/ddm288.
Article
CAS
PubMed
Google Scholar
Rogers JT, Rusiana I, Trotter J, Zhao L, Donaldson E, Pak DT, Babus LW, Peters M, Banko JL, Chavis P: Reelin supplementation enhances cognitive ability, synaptic plasticity, and dendritic spine density. Learn Mem. 2011, 18 (9): 558-564. 10.1101/lm.2153511.
Article
CAS
PubMed
PubMed Central
Google Scholar
Daily JL, Nash K, Jinwal U, Golde T, Rogers J, Peters MM, Burdine RD, Dickey C, Banko JL, Weeber EJ: Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. PLoS One. 2011, 6 (12): e27221-10.1371/journal.pone.0027221.
Article
CAS
PubMed
PubMed Central
Google Scholar
Huang H-S, Allen JA, Mabb AM, King IF, Miriyala J, Taylor-Blake B, Sciaky N, Dutton JW, Lee H-M, Chen X: Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature. 2012, 481 (7380): 185-189. 10.1038/nature10726.
Article
CAS
Google Scholar
Van Woerden GM, Harris KD, Hojjati MR, Gustin RM, Qiu S, de Avila FR, Jiang Y-h, Elgersma Y, Weeber EJ: Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation. Nat Neurosci. 2007, 10 (3): 280-282. 10.1038/nn1845.
Article
CAS
PubMed
Google Scholar
Ulgen BO, Field MG, Qureshi W, Knight RA, Stephanou A, Latchman DS, Vasquez D, Barry SP, Saravolatz L, Scarabelli GM, Faggian G, Mazzucco A, Saravolatz L, Chen-Scarabelli C, Scarabelli TM: The role of minocycline in ischemia-reperfusion injury: a comprehensive review of an old drug with new implications. Recent Pat Cardiovasc Drug Discov. 2011, 6 (2): 123-132. 10.2174/157489011795933783.
Article
CAS
PubMed
Google Scholar
Macdonald H, Kelly RG, Allen ES, Noble JF, Kanegis LA: Pharmacokinetic studies on minocycline in man. Clin Pharmacol Ther. 1973, 14 (5): 852-861.
Article
CAS
PubMed
Google Scholar
Bilousova TV, Dansie L, Ngo M, Aye J, Charles JR, Ethell DW, Ethell IM: Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. J Med Genet. 2009, 46 (2): 94-102. 10.1136/jmg.2008.061796.
Article
CAS
PubMed
Google Scholar
Kernt M, Neubauer AS, Eibl KH, Wolf A, Ulbig MW, Kampik A, Hirneiss C: Minocycline is cytoprotective in human trabecular meshwork cells and optic nerve head astrocytes by increasing expression of XIAP, survivin, and Bcl-2. Clin Ophthalmol (Auckland, NZ). 2010, 4: 591-10.2147/OPTH.S11216.
Article
Google Scholar
Mehrotra S, Pecaut MJ, Gridley DS: Minocycline modulates cytokine and gene expression profiles in the brain after whole-body exposure to radiation. In vivo. 2014, 28 (1): 21-32.
CAS
PubMed
Google Scholar
Thomas GM, Huganir RL: MAPK cascade signalling and synaptic plasticity. Nat Rev Neurosci. 2004, 5 (3): 173-183. 10.1038/nrn1346.
Article
CAS
PubMed
Google Scholar
Jin LJ, Schlesinger F, Guan Q, Song YP, Nie ZY: The two different effects of the potential neuroprotective compound minocycline on AMPA-type glutamate receptors. Pharmacology. 2012, 89 (3–4): 156-162. 10.1159/000336773.
Article
CAS
PubMed
Google Scholar
Chen H, Manev H: Effects of minocycline on cocaine sensitization and phosphorylation of GluR1 receptors in 5-lipoxygenase deficient mice. Neuropharmacology. 2011, 60 (7–8): 1058-1063. 10.1016/j.neuropharm.2010.09.006.
Article
CAS
PubMed
Google Scholar
Manev H, Manev R: Interactions with GluR1 AMPA receptors could influence the therapeutic usefulness of minocycline in ALS. Amyotroph Lateral Scler. 2009, 10 (5–6): 416-417. 10.3109/17482960802702288.
Article
CAS
PubMed
Google Scholar
Goni-Allo B, Ramos M, Jordán J, Aguirre N: In vivo studies on the protective role of minocycline against excitotoxicity caused by malonate or N−methyl-D-aspartate. Exp Neurol. 2005, 191 (2): 326-330. 10.1016/j.expneurol.2004.10.010.
Article
CAS
PubMed
Google Scholar
Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim T-K, Griffith EC, Waldon Z, Maehr R: The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell. 2010, 140 (5): 704-716. 10.1016/j.cell.2010.01.026.
Article
CAS
PubMed
PubMed Central
Google Scholar
Fujita Y, Ishima T, Kunitachi S, Hagiwara H, Zhang L, Iyo M, Hashimoto K: Phencyclidine-induced cognitive deficits in mice are improved by subsequent subchronic administration of the antibiotic drug minocycline. Prog Neuro-Psychopharmacol Biol Psychiatry. 2008, 32 (2): 336-339. 10.1016/j.pnpbp.2007.08.031.
Article
CAS
Google Scholar
Pignatelli M, Piccinin S, Molinaro G, Di Menna L, Riozzi B, Cannella M, Motolese M, Vetere G, Catania MV, Battaglia G: Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome. The Journal of neuroscience. 2014, 34 (13): 4558-4566. 10.1523/JNEUROSCI.1846-13.2014.
Article
PubMed
Google Scholar
Weeber EJ, Jiang Y-H, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL: Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. The Journal of neuroscience. 2003, 23 (7): 2634-2644.
CAS
PubMed
Google Scholar
Quinlan EM, Philpot BD, Huganir RL, Bear MF: Rapid, experience-dependent expression of synaptic NMDA receptors in visual cortex in vivo. Nat Neurosci. 1999, 2 (4): 352-357. 10.1038/7263.
Article
CAS
PubMed
Google Scholar
Paribello C, Tao L, Folino A, Berry-Kravis E, Tranfaglia M, Ethell IM, Ethell DW: Open-label add-on treatment trial of minocycline in fragile X syndrome. BMC Neurol. 2010, 10: 91-10.1186/1471-2377-10-91.
Article
PubMed
PubMed Central
Google Scholar
Yong VW, Wells J, Giuliani F, Casha S, Power C, Metz LM: The promise of minocycline in neurology. Lancet Neurol. 2004, 3 (12): 744-751. 10.1016/S1474-4422(04)00937-8.
Article
PubMed
Google Scholar
Garrido-Mesa N, Zarzuelo A, Galvez J: Minocycline: far beyond an antibiotic. Br J Pharmacol. 2013, 169 (2): 337-352. 10.1111/bph.12139.
Article
CAS
PubMed
PubMed Central
Google Scholar
Egawa K, Kitagawa K, Inoue K, Takayama M, Takayama C, Saitoh S, Kishino T, Kitagawa M, Fukuda A: Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome. Sci Transl Med. 2012, 4 (163): 163ra157-163ra157. 10.1126/scitranslmed.3004655.
Article
PubMed
Google Scholar
Goulden V, Glass D, Cunliffe WJ: Safety of long-term high-dose minocycline in the treatment of acne. Br J Dermatol. 1996, 134 (4): 693-695. 10.1111/j.1365-2133.1996.tb06972.x.
Article
CAS
PubMed
Google Scholar
Fanning WL, Gump DW, Sofferman RA: Side effects of minocycline: a double-blind study. Antimicrob Agents Chemother. 1977, 11 (4): 712-717. 10.1128/AAC.11.4.712.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cohen J: Statistical Power Analysis for the Behavioral Sciences. ᅟ: Routledge; 2013.
Black MM, Matula K: Essentials of Bayley Scales of Infant Development II Assessment. 2000, John Wiley & Sons, Inc, New York
Google Scholar
NINDS Common Data Elements. National Institutes of Health 2014, ᅟ:ᅟ [http://www.commondataelements.ninds.nih.gov/epilepsy.aspx#tab=Data_Standards]. Web.,
Peters SU, Goddard‐Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA: Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am J Med Genet A. 2004, 128 (2): 110-113. 10.1002/ajmg.a.30065.
Article
Google Scholar
DeWitt M, Schreck K, Mulick J: Use of bayley scales in individuals with profound mental retardation: comparison of the first and second editions. J Dev Phys Disabil. 1998, 10 (3): 307-313. 10.1023/A:1022824225502.
Article
Google Scholar
Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri‐Welge R, Nespeca M, Anselm I, Waisbren S: Double−blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010, 152 (8): 1994-2001. 10.1002/ajmg.a.33509.
Article
Google Scholar
Loring DW, Bowden SC: The STROBE statement and neuropsychology: lighting the way toward evidence-based practice. Clin Neuropsychol 2013, ᅟ:1–19. ahead-of-print.,
Pearson Education: Using the Bayley Scales of Infant and Toddler Development, 3rd Edition, to Assess Individuals with Severe Delays, 2008. [http://images.pearsonassessments.com/images/tmrs/tmrs_rg/TechReport1.pdf?WT.mc_id=TMRS_Bayley_III_Technical_Report_1]. Web.
Loring DW, Lowenstein DH, Barbaro NM, Fureman BE, Odenkirchen J, Jacobs MP, Austin JK, Dlugos DJ, French JA, Gaillard WD: Common data elements in epilepsy research: development and implementation of the NINDS epilepsy CDE project. Epilepsia. 2011, 52 (6): 1186-1191. 10.1111/j.1528-1167.2011.03018.x.
Article
PubMed
PubMed Central
Google Scholar
Thibert RL, Pfeifer HH, Larson AM, Raby AR, Reynolds AA, Morgan AK, Thiele EA: Low glycemic index treatment for seizures in Angelman syndrome. Epilepsia. 2012, 53 (9): 1498-1502. 10.1111/j.1528-1167.2012.03537.x.
Article
CAS
PubMed
Google Scholar
Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL: A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011, 155A (12): 2956-2963. 10.1002/ajmg.a.34297.
Article
PubMed
Google Scholar
Busner J, Targum SD: The clinical global impressions scale: applying a research tool in clinical practice. Psychiatry. 2007, 4 (7): 28-37.
PubMed
PubMed Central
Google Scholar