Skip to main content Accessibility help
×
Home
  • Print publication year: 2011
  • Online publication date: March 2012

Chapter 39 - Down syndrome

from Section 3 - Symptomatic epilepsy

References

Aldridge K, Reeves RH, Olson LE, et al. (2007) Differential effects of trisomy on brain shape and volume in related aneuploid mouse models. Am J Med Genet 143A:1060–70.
Altafaj X, Dierssen M, Baamonde C, et al. (2001) Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Hum Mol Genet 10:1915–23.
Arron JR, Winslow MM, Polleri A, et al. (2006) NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature 441:595–600.
Chapman RS, Hesketh LJ (2000) Behavioral phenotype of individuals with Down syndrome. Ment Retard Dev Disabil Res Rev 6:84–95.
De Simone R, Daquin G, Genton P (2006) Senile myoclonic epilepsy in Down syndrome: a video and EEG presentation of two cases. Epilept Disord 8:223–7.
Eisermann MM, DeLaRaillere A, Dellatolas G, et al. (2003) Infantile spasms in Down syndrome: effects of delayed anticonvulsive treatment. Epilepsy Res 55:21–7.
Guerrini R, Genton P, Bureau M, et al. (1990) Reflex seizures are frequent in patients with Down syndrome and epilepsy. Epilepsia 31:406–17.
Möller JC, Hamer HM, Oertel WH, Rosenow F (2002) Late-onset myoclonic epilepsy in Down's syndrome (LOMEDS). Seizure 11(Suppl A):303–5.
Nabbout R, Melki I, Gerbaka B, Dulac O, Akatcherian C (2001) Infantile spasms in Down syndrome: good response to a short course of vigabatrin. Epilepsia 42:1580–3.
O'Doherty A, Ruf S, Mulligan C, et al. (2005) An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309:2033–7.
Pueschel SM, Louis S, McKnight P (1991) Seizure disorders in Down syndrome. Arch Neurol 48:318–20.
Puri BK, Ho KW, Singh I (2001) Age of seizure onset in adults with Down's syndrome. Int J Clin Pract 55:442–4.
Silva ML, Cieuta C, Guerrini R, et al. (1996) Early clinical and EEG features of infantile spasms in Down syndrome. Epilepsia 37:977–82.
Silverman W (2007) Down syndrome: cognitive phenotype. Ment Retard Dev Disabil Res Rev 13:228–36.
Voronov SV, Frere SG, Giovedi S, et al. (2008) Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. Proc Natl Acad Sci USA 105:9415–20.
Weis S, Weber G, Neuhold A, Rett A (1991) Down syndrome: MR quantification of brain structures and comparison with normal control subjects. AJNR Am J Neuroradiol 12:1207–11.
Wiseman FK, Alford KA, Tybulewicz LJ, et al. (2009) Down syndrome: recent progress and future prospects. Hum Mol Genet 18(R1):R75–83.