Abstract:
:We report identical twins with supernumerary ring chromosome 19 mosaicism, who had severe refractory epilepsy at an early age. The epilepsy was dominated largely by severe life-threatening tonic seizures. Both twins died, likely as a consequence of their severe epilepsy. They displayed no dysmorphic features. Eight cases of ring chromosome 19 have been reported in the literature, all to our knowledge without epilepsy. The clinical picture of these twins emphasizes the importance of carrying out a karyotype study on patients with early-onset epilepsy even in the absence of dysmorphic features.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Shahwan A,Green AJ,Carey A,Stallings RL,O'Flaherty OC,King MDdoi
10.1111/j.0013-9580.2004.00304.xsubject
Has Abstractpub_date
2004-08-01 00:00:00pages
997-1000issue
8eissn
0013-9580issn
1528-1167pii
EPI00304journal_volume
45pub_type
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