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Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

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Title: Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.
Authors: 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
Source: Acta Neurologica Scandinavica. Dec2018, Vol. 138 Issue 6, p523-530. 8p.
Subjects: Epilepsy, Electroencephalography, Brain imaging, Infantile spasms, Phenotypes
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. [ABSTRACT FROM AUTHOR]
Copyright of Acta Neurologica Scandinavica is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.
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  Data: <searchLink fieldCode="AR" term="%22Verrotti%2C+Alberto%22">Verrotti, Alberto</searchLink><br /><searchLink fieldCode="AR" term="%22Greco%2C+Marco%22">Greco, Marco</searchLink><br /><searchLink fieldCode="AR" term="%22Varriale%2C+Gaia%22">Varriale, Gaia</searchLink><br /><searchLink fieldCode="AR" term="%22Tamborino%2C+Agnese%22">Tamborino, Agnese</searchLink><br /><searchLink fieldCode="AR" term="%22Savasta%2C+Salvatore%22">Savasta, Salvatore</searchLink><br /><searchLink fieldCode="AR" term="%22Carotenuto%2C+Marco%22">Carotenuto, Marco</searchLink><br /><searchLink fieldCode="AR" term="%22Elia%2C+Maurizio%22">Elia, Maurizio</searchLink><br /><searchLink fieldCode="AR" term="%22Operto%2C+Francesca%22">Operto, Francesca</searchLink><br /><searchLink fieldCode="AR" term="%22Margari%2C+Lucia%22">Margari, Lucia</searchLink><br /><searchLink fieldCode="AR" term="%22Belcastro%2C+Vincenzo%22">Belcastro, Vincenzo</searchLink><br /><searchLink fieldCode="AR" term="%22Selicorni%2C+Angelo%22">Selicorni, Angelo</searchLink><br /><searchLink fieldCode="AR" term="%22Freri%2C+Elena%22">Freri, Elena</searchLink><br /><searchLink fieldCode="AR" term="%22Matricardi%2C+Sara%22">Matricardi, Sara</searchLink><br /><searchLink fieldCode="AR" term="%22Granata%2C+Tiziana%22">Granata, Tiziana</searchLink><br /><searchLink fieldCode="AR" term="%22Ragona%2C+Francesca%22">Ragona, Francesca</searchLink><br /><searchLink fieldCode="AR" term="%22Capovilla%2C+Giuseppe%22">Capovilla, Giuseppe</searchLink><br /><searchLink fieldCode="AR" term="%22Spalice%2C+Alberto%22">Spalice, Alberto</searchLink><br /><searchLink fieldCode="AR" term="%22Coppola%2C+Giangennaro%22">Coppola, Giangennaro</searchLink><br /><searchLink fieldCode="AR" term="%22Striano%2C+Pasquale%22">Striano, Pasquale</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Acta+Neurologica+Scandinavica%22">Acta Neurologica Scandinavica</searchLink>. Dec2018, Vol. 138 Issue 6, p523-530. 8p.
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  Data: <searchLink fieldCode="DE" term="%22Epilepsy%22">Epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22Electroencephalography%22">Electroencephalography</searchLink><br /><searchLink fieldCode="DE" term="%22Brain+imaging%22">Brain imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Infantile+spasms%22">Infantile spasms</searchLink><br /><searchLink fieldCode="DE" term="%22Phenotypes%22">Phenotypes</searchLink>
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  Data: 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Acta Neurologica Scandinavica is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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