Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications

Alberto Verrotti, Marco Greco, Gaia Varriale, Agnese Tamborino, Salvatore Savasta, Marco Carotenuto, Maurizio Elia, Francesca Operto, Lucia Margari, Vincenzo Belcastro, Angelo Selicorni, Elena Freri, Sara Matricardi, Tiziana Granata, Francesca Ragona, Giuseppe Capovilla, Alberto Spalice, Giangennaro Coppola, Pasquale Striano

Research output: Contribution to journalArticlepeer-review

Abstract

OBJECTIVIES: Monosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, congenital heart defects. Epilepsy can be another feature but there are few data about the types of seizures and long term prognosis. The aim of this work was to analyse the electroclinical phenotype and the long-term outcome in patients with monosomy 1p36 syndrome and epilepsy.

MATERIALS AND METHODS: Data of 22 patients with monosomy 1p36 syndrome and epilepsy were reconstructed by reviewing medical records. For each patient we analysed age at time of diagnosis, first signs of the syndrome, age at seizure onset, seizure type and its frequency, EEG and neuroimaging findings, the response to antiepileptic drugs treatment and clinical outcome up to the last follow-up assessment.

RESULTS: Infantile Spasm (IS) represents the most frequent type at epilepsy onset, which occurs in 36.4% of children, and a half of these were associated with hypsarrhythmic electroencephalogram. All patients with IS had persistence of seizures, unlike other patients with different seizures onset. Children with abnormal brain neuroimaging have a greater chance to develop pharmacoresistant epilepsy.

CONCLUSION: This syndrome represents a significant cause of IS: these patients, who develop IS, can suffer from pharmacoresistent epilepsy, that is more frequent in children with brain abnormalities.

Original languageEnglish
JournalActa Neurologica Scandinavica
DOIs
Publication statusE-pub ahead of print - Aug 14 2018

Fingerprint Dive into the research topics of 'Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications'. Together they form a unique fingerprint.

Cite this