Literature DB >> 17662064

Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13.

Claudia Torniero1, Orsetta Zuffardi, Francesca Darra, Bernardo Dalla Bernardina.   

Abstract

We describe a male carrier of trisomy 13 with scotosensitive and photosensitive myoclonic seizures appearing at the age of 8 months and persisting until death at 20 months. The seizures consisted of massive myoclonic jerks induced both by switching the room light suddenly on or off or by IPS with a frequency of 1 s. Spontaneous seizures were absent. The child also presented from the same age with breath-holding spells. This is interesting because it represents a rare example of the co-occurrence of scotosensitive and photosensitive seizures. Furthermore, a possible association to locus on 13q31.3 has been reported for photosensitivity, while for scotosensitivity there is no previous genetic information.

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Year:  2007        PMID: 17662064     DOI: 10.1111/j.1528-1167.2007.01220.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   5.864


  3 in total

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3.  Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy.

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  3 in total

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