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 |
|---|---|
| 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