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Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications
Author(s) -
Verrotti Alberto,
Greco Marco,
Varriale Gaia,
Tamborino Agnese,
Savasta Salvatore,
Carotenuto Marco,
Elia Maurizio,
Operto Francesca,
Margari Lucia,
Belcastro Vincenzo,
Selicorni Angelo,
Freri Elena,
Matricardi Sara,
Granata Tiziana,
Ragona Francesca,
Capovilla Giuseppe,
Spalice Alberto,
Coppola Giangennaro,
Striano Pasquale
Publication year - 2018
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/ane.13006
Subject(s) - monosomy , epilepsy , neuroimaging , pediatrics , electroencephalography , epilepsy syndromes , medicine , short stature , psychology , neuroscience , psychiatry , genetics , chromosome , gene , karyotype , biology
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.