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|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 1996|
ASJC Scopus subject areas
- Clinical Neurology