Increased sleep spindle activity in patients with costello syndrome (HRAS gene mutation)

Journal of Clinical Neurophysiology

Volumn 28, Issue 3, 2011, Pages 314-318

  Marca, Giacomo Della ^a   Leoni, Chiara ^a   Dittoni, Serena ^a   Battaglia, Domenica ^a   Losurdo, Anna ^a   Testani, Elisa ^a   Colicchio, Salvatore ^a   Gnoni, Valentina ^a   Gambardella, Maria L ^a   Mariotti, Paolo ^a   Alfieri, Paolo ^b   Tartaglia, Marco ^c   Zampino, Giuseppe ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

Costello syndrome; EEG; Frequency analysis; HRAS; Sleep; Spindles

Indexed keywords

GUANOSINE TRIPHOSPHATASE;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; COSTELLO SYNDROME; ELECTROENCEPHALOGRAM; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOSPITALIZATION; HUMAN; MALE; POLYSOMNOGRAPHY; SLEEP SPINDLE; SPECTROSCOPY; TOPOGRAPHY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COSTELLO SYNDROME; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; INFANT; MALE; MUTATION; PROTO-ONCOGENE PROTEINS P21(RAS); SLEEP DISORDERS; YOUNG ADULT;

EID: 79958192140     PISSN: 07360258     EISSN: 15371603     Source Type: Journal    
DOI: 10.1097/WNP.0b013e31821c3ad5     Document Type: Article

References (34)

1. Amzica F, Steriade M. Integration of low-frequency sleep oscillations in cortico-thalamic networks. Acta Neurobiol Exp (Wars) 2000;60:229-245. (Pubitemid 30353782)
2. Aoki Y, Niihori T, Kawame H, et al. Germline mutations in HRAS proto-onco-gene cause Costello syndrome. Nat Genet 2005;37:1038-1040. (Pubitemid 41486653)
3. Bowersox SS, Kaitin KI, Dement WC. EEG spindle activity as a function of age: relationship to sleep continuity. Brain Res 1985;334:303-308. (Pubitemid 15099970)
4. Clemens B, Menes A. Sleep spindle asymmetry in epileptic patients. Clin Neuro-physiol 2000;111:2155-2159.
5. Davies SJ, Hughes HE. Costello syndrome: natural history and differential diagnosis of cutis laxa. J Med Genet 1994;31:486-489. (Pubitemid 24182944)
6. De Gennaro L, Ferrara M. Sleep spindles: an overview. Sleep Med Rev 2003;7:423-440. (Pubitemid 37221986)
7. Della Marca G, Vasta I, Scarano E, et al. Obstructive sleep apnea in Costello syndrome. Am J Med Genet A 2006a;140:257-262. (Pubitemid 43190936)
8. Della Marca G, Rubino M, Vollono C, et al. Rhythmic tongue movements during sleep: a peculiar parasomnia in Costello syndrome. Mov Disord 2006b; 21:473-478.
9. Delrue MA, Chateil JF, Arveiler B, Lacombe D. Costello syndrome and neurological abnormalities. Am J Med Genet A 2003;123A:301-305. (Pubitemid 37464351)
10. Denayer E, Legius E. What's new in the neuro-cardio-facial-cutaneous syndromes? Eur J Pediatr 2007;166:1091-1098. (Pubitemid 47476634)
11. Der Kaloustian VM, Moroz B, McIntosh N, et al. Costello syndrome. Am J Med Genet 1991;41:69-73.
12. Di Rocco M, Gatti R, Gandullia P, et al. Report on two patients with Costello syndrome and sialuria. Am J Med Genet 1993;47:1135-1140. (Pubitemid 23323423)
13. Dileone M, Profice P, Pilato F, et al. Enhanced human brain associative plasticity in Costello syndrome. J Physiol 588:3445-3456.
14. Eschenko O, Molle M, Born J, Sara SJ. Elevated sleep spindle density after learning or after retrieval in rats. J Neurosci 2006;26:12914-12920. (Pubitemid 44954611)
15. Finelli LA, Achermann P, Borbely AA. Individual 'fingerprints' in human sleep EEG topography. Neuropsychopharmacology 2001;25(suppl):S57-S62. (Pubitemid 33000270)
16. Gibbs EL, Gibbs FA. Extreme spindles: correlation of electroencephalographic sleep pattern with mental retardation. Science 1962;138:1106-1107.
17. Grigg-Damberger M, Gozal D, Marcus CL, et al. The visual scoring of sleep and arousal in infants and children. J Clin Sleep Med 2007;3:201-240. (Pubitemid 46655965)
18. Gripp KW, Lin AE, Nicholson L, et al. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate car-dio-facio-cutaneous syndrome from Costello syndrome. Am J Med Genet A 2007;143A:1472-1480. (Pubitemid 47051026)
19. Jankel WR, Niedermeyer E. Sleep spindles. J Clin Neurophysiol 1985;2:1-35. (Pubitemid 15169524)
20. Jobert M, Poiseau E, Jahnig P, et al. Topographical analysis of sleep spindle activity. Neuropsychobiology 1992;26:210-217. (Pubitemid 23095710)
21. McCormick L, Nielsen T, Nicolas A, et al. Topographical distribution of spindles and K-complexes in normal subjects. Sleep 1997;20:939-941. (Pubitemid 28042440)
22. Okamoto N, Chiyo H, Imai K, et al. A Japanese patient with the Costello syndrome. Hum Genet 1994;93:605-606. (Pubitemid 24125590)
23. Rechtschaffen A, Kales A. A manual of standardized terminology, techniques and scoring system for sleep stages of human subjects. Brain Information Service/Brain Research Institute; University of California Los Angeles, Los Angeles, CA, 1968.
24. Rohde JA, Kooi KA, Richey ET. Sleep spindles, mental retardation and epilepsy. Electroencephalogr Clin Neurophysiol 1969;26:112.
25. Silber MH, Ancoli-Israel S, Bonnet MH, et al. The visual scoring of sleep in adults. J Clin Sleep Med 2007;3:121-131. (Pubitemid 46649103)
26. Steriade M. Thalamic origin of sleep spindles: Morison and Bassett (1945). J Neurophysiol 1995;73:921-922.
27. Steriade M. Corticothalamic resonance, states of vigilance and mentation. Neuro-science 2000;101:243-276.
28. Steriade M. The corticothalamic system in sleep. Front Biosci 2003;8: d878-d899. (Pubitemid 38943170)
29. Uliel S, Tauman R, Greenfeld M, Sivan Y. Normal polysomnographic respiratory values in children and adolescents. Chest 2004;125:872-878. (Pubitemid 38367276)
30. Wechsler D. Equivalent test and mental ages for WISC. J Consult Psychol 1951;15:381-384.
31. Werk CM, Harbour VL, Chapman CA. Induction of long-term potentiation leads to increased reliability of evoked neocortical spindles in vivo. Neuroscience 2005;131:793-800. (Pubitemid 40320932)
32. Werth E, Achermann P, Dijk DJ, Borbely AA. Spindle frequency activity in the sleep EEG: individual differences and topographic distribution. Electroence-phalogr Clin Neurophysiol 1997;103:535-542. (Pubitemid 27505346)
33. Zampino G, Mastroiacovo P, Ricci R, et al. Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology. Am J Med Genet 1993;47:176-183. (Pubitemid 23240687)
34. Zampino G, Pantaleoni F, Carta C, et al. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat 2007;28:265-272.