SEARCH

SEARCH BY CITATION

References

  • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:12291239.
  • Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729734.
  • Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, Badaracco G, Landsberger N, Kilstrup-Nielsen C. (2006) Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem 281:3204832056.
  • Buoni S, Zannolli R, Colamaria V, Macucci F, Di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J. (2006) Myoclonic encephalopathy in the CDKL5 gene mutation. Clin Neurophysiol 117:223227.
  • Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gecz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13:11131120.
  • Gastaut H, Roger J, Soulayrol R, Pinsardi N. (1964) L'encéphalopathie myoclonique infantile (syndrome de West). Masson, Paris .
  • Gibbs FA, Anderson EM. (1965) Treatment of hypsarrhythmia and infantile spasms with a librium analogue. Neurology 15:11731176.
  • Glaze DG, Schultz RJ, Frost JD. (1998) Rett syndrome: characterization of seizures versus non-seizures. Electroencephalogr Clin Neurophysiol 106:7983.
  • Goutieres F, Aicardi J. (1985) Rett syndrome: clinical presentation and laboratory investigations in 12 further French patients. Brain Dev 7:305306.
  • Goutieres F, Aicardi J. (1986) Atypical forms of Rett syndrome. Am J Med Genet Suppl 1:183194.
  • Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P. (2007) Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. Brain Dev 29:239242.
  • Guerrini R. (2006) Epilepsy in children. Lancet 367:499524.
  • Hagberg BA, Skjeldal OH. (1994) Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 11:511.
  • Hanefeld F. (1985) The clinical pattern of the Rett syndrome. Brain Dev 7:320325.
  • Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J. (2003) Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 72:14011411.
  • Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. (2005) CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 14:19351946.
  • Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D, Ballabio A, Franco B. (1998) Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics 51:427433.
  • Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T. (2006) Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 70:2933.
  • Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A. (2005) CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 42:103107.
  • Shaffer LG, Heilstedt HA. (2001) Terminal deletion of 1p36. Lancet 358 Suppl: S9.
  • Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG. (1997) Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 61:642650.
  • Slavotinek A, Shaffer LG, Shapira SK. (1999) Monosomy 1p36. J Med Genet 36:657663.
  • Steffenburg U, Hagberg G, Hagberg B. (2001) Epilepsy in a representative series of Rett syndrome. Acta Paediatr 90:3439.
  • Stromme P, Mangelsdorf ME, Scheffer IE, Gecz J. (2002a) Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev 24:266268.
  • Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gecz J. (2002b) Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30:441445.
  • Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gecz J, Ropers HH, Kalscheuer VM. (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:11491154.
  • Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J. (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:10791093.