Abstract
We report on a 13 months old girl with multiple anomalies on physical examination, asymmetric hypsarrhythmia with atypical spasm and partial seizures, cortical dysplasia and partial deletion of the short arm of chromosome 18 (18p-). Further investigations on similar cases may provide additional insights about the genotype/phenotype and cortical dysgenesis relationships of specific chromosome segments.
Translated title of the contribution | 18p- mosaicism: Clinical and neurophysiological features |
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Original language | Italian |
Pages (from-to) | 391-392 |
Number of pages | 2 |
Journal | Bollettino - Lega Italiana contro l'Epilessia |
Issue number | 95-96 |
Publication status | Published - 1996 |
ASJC Scopus subject areas
- Clinical Neurology