Literature DB >> 8132117

Ring chromosome 20 mosaicism in a girl with complex partial seizures.

I Holopainen1, M Penttinen, T Lakkala, T Aärimaa.   

Abstract

The authors report an 11-year-old girl with epilepsy, poor school-performance and minor behavioural disorders. The epilepsy is characterized by complex partial seizures, sometimes progressing secondarily into generalized tonic-clonic seizures, and is poorly controlled by medical treatment. Chromosomal analysis revealed a ring chromosome 20 mosaicism. The affected patient shows signs of ring chromosome 20 syndrome, characterized in the present case by poor school-performance, behavioural disorders and epilepsy.

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Year:  1994        PMID: 8132117     DOI: 10.1111/j.1469-8749.1994.tb11768.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  1 in total

1.  Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug.

Authors:  Janet Ling; Wai Lan Yeung; Kam Lun Hon; Ivan F M Lo; Ho-Ming Luk; Cheuk Wing Fung; Alexander K C Leung
Journal:  Case Rep Pediatr       Date:  2022-05-26
  1 in total

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