Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration.

Although increasingly recognised, ring chromosome 20 (r[20]) syndrome is still diagnosed with delay, sometimes leading to inappropriate presurgical evaluation. The focal, presumed frontal, character of the seizures manifesting with fear and hypermotor behaviour and episodes of non-convulsive status epilepticus (NCSE) are most typical, as well as cognitive impairment with behavioural problems and, sometimes, dysmorphic signs. We present a girl diagnosed at the age of 13 years who suffered from an atypical clinical presentation, with minimal cognitive problems, absence of dysmorphic symptoms, and hypermotor/gelastic seizures. [Published with video sequences].

Citation

Petia Dimova, Iliyana Boneva, Albena Todorova, Lorella Minotti, Philippe Kahane. Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration. Epileptic disorders : international epilepsy journal with videotape. 2012 Jun;14(2):181-6

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PMID: 22591830

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