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Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome Volume 17, numéro 4, December 2015

TEST YOURSELF

(1) What is the aetiology of cri-du-chat syndrome (CdCs)?


(2) What is the incidence rate of epilepsy in patients with CdCs?


(3) Is there clinical heterogeneity with regards to the epilepsy of patients with CdCs?

 

 

 

 

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Answers

(1) Cri-du-chat syndrome is caused by deletion of the short arm of chromosome 5.


(2) The concomitance of epilepsy or seizures is reported to vary from 0 to 16%. According to a published report in 2006 by the Italian Register, 25 of 159 patients with CdCs developed seizures, which is a higher incidence rate relative to the general population.


(3) Yes. Published cases of epilepsy accompanying CdCs, including our two cases, were shown to exhibit various different electroclinical manifestations.

 

 

 

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