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  • Print publication year: 2012
  • Online publication date: December 2012

Case 18 - Epilepsy in the ring chromosome 20

from Section 1 - Diagnosis

Suggested reading

AugustijnPB, ParraJ, WoutersCH, et al. Ring chromosome 20 epilepsy in children: electroclinical features. Neurology 2001; 57: 1108–11.
BirabenA, SemahF, RibeiroMJ, et al. PET evidence for a role of the basal ganglia in patienhts with ring chromosome 20 epilepsy. Neurology 2004; 63: 73–7.
BouilleretV, SemahF, BirabenA, et al. Involvement of the basal ganglia in refractory epilepsy: an 18Fluoro-L-Dopa PET study using 2 methods of analysis. J Nucl Med 2005; 46: 540–7.
CaneviniMP, SgroV, ZuffardiO, et al. Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. Epilepsia 1998; 39: 942–51.
GiardinoD, VignoliA, BallaratiL, et al. Genetic investigations in 8 patients affected by ring 20 chromosome syndrome. BMC Med Genet 2010; 11: 146.
InoueY, FujiwaraT, MatsudaK, et al. Ring chromosome 20 and nonconvulsive status epilepticus: a new epileptic syndrome. Brain 1997; 120: 939–53.
NishiwakiT, HiranoM, KumazawaM, UenoS. Mosaicism and phenotype in ring chromosome 20 syndrome. Acta Neurol Scand 2005; 111: 205–8.
StarrMS. The role of dopamine in epilepsy. Synapse 1996; 159–94.
VignoliA, CaneviniMP, DarraF, et al. Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. Epilepsia 2009; 50: 2420–7.
VilleD, KaminskaA, Bahi-BuissonN, et al. Early pattern of EEG in ring chromosome 20 syndrome. Epilepsia 2006; 47: 543–9.