Thea Giacomini, Ramona Cordani, Irene Bagnasco, Fabiana Vercellino, Lucio Giordano, Giuseppe Milito, Giovanni Battista Ferrero, Giorgia Mandrile, Marcello Scala, Mariaclaudia Meli, Raffaele Falsaperla, Gianvittorio Luria, Elisa De Grandis, Edoardo Canale, Elisabetta Amadori, Pasquale Striano, Lino Nobili, Laura Siri
{"title":"Kleefstra综合征癫痫的临床特点。","authors":"Thea Giacomini, Ramona Cordani, Irene Bagnasco, Fabiana Vercellino, Lucio Giordano, Giuseppe Milito, Giovanni Battista Ferrero, Giorgia Mandrile, Marcello Scala, Mariaclaudia Meli, Raffaele Falsaperla, Gianvittorio Luria, Elisa De Grandis, Edoardo Canale, Elisabetta Amadori, Pasquale Striano, Lino Nobili, Laura Siri","doi":"10.1055/s-0043-1775977","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Kleefstra syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. Autism spectrum disorder, severe language impairment, and sleep disorders have also been described. The syndrome can be either caused by a microdeletion in 9q34.3 or by pathogenic variants in the euchromatin histone methyltransferase 1 gene (<i>EHMT1</i>, *607001). Although epilepsy has been reported in 20 to 30% of subjects, a detailed description of epileptic features and underlying etiology is still lacking. The purpose of this study is to investigate epilepsy features in a cohort of epileptic patients with KS.</p><p><strong>Methods: </strong>This multicenter study investigated eight patients with KS and epilepsy. Our findings were compared with literature data.</p><p><strong>Results: </strong>We included five patients with 9q or 9q34.33 deletions, a subject with a complex translocation involving <i>EHMT1</i>, and two with pathogenic <i>EHMT1</i> variants. All patients presented with moderate to severe developmental delay, language impairment, microcephaly, and infantile hypotonia. Although the epileptic manifestations were heterogeneous, most patients experienced focal seizures. The seizure frequency differs according to the age of epilepsy onset, with patients with early-onset epilepsy (before 36 months of age) presenting more frequent seizures. An overtime reduction in seizure frequency, as well as in antiseizure drug number, was observed in all patients. Developmental delay degree did not correlate with seizure onset and frequency or drug resistance.</p><p><strong>Conclusion: </strong>Epilepsy is a frequent finding in KS, but the underlying pathogenetic mechanism and specific features remain elusive.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Electroclinical Features of Epilepsy in Kleefstra Syndrome.\",\"authors\":\"Thea Giacomini, Ramona Cordani, Irene Bagnasco, Fabiana Vercellino, Lucio Giordano, Giuseppe Milito, Giovanni Battista Ferrero, Giorgia Mandrile, Marcello Scala, Mariaclaudia Meli, Raffaele Falsaperla, Gianvittorio Luria, Elisa De Grandis, Edoardo Canale, Elisabetta Amadori, Pasquale Striano, Lino Nobili, Laura Siri\",\"doi\":\"10.1055/s-0043-1775977\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Kleefstra syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. Autism spectrum disorder, severe language impairment, and sleep disorders have also been described. The syndrome can be either caused by a microdeletion in 9q34.3 or by pathogenic variants in the euchromatin histone methyltransferase 1 gene (<i>EHMT1</i>, *607001). Although epilepsy has been reported in 20 to 30% of subjects, a detailed description of epileptic features and underlying etiology is still lacking. The purpose of this study is to investigate epilepsy features in a cohort of epileptic patients with KS.</p><p><strong>Methods: </strong>This multicenter study investigated eight patients with KS and epilepsy. Our findings were compared with literature data.</p><p><strong>Results: </strong>We included five patients with 9q or 9q34.33 deletions, a subject with a complex translocation involving <i>EHMT1</i>, and two with pathogenic <i>EHMT1</i> variants. All patients presented with moderate to severe developmental delay, language impairment, microcephaly, and infantile hypotonia. Although the epileptic manifestations were heterogeneous, most patients experienced focal seizures. The seizure frequency differs according to the age of epilepsy onset, with patients with early-onset epilepsy (before 36 months of age) presenting more frequent seizures. An overtime reduction in seizure frequency, as well as in antiseizure drug number, was observed in all patients. Developmental delay degree did not correlate with seizure onset and frequency or drug resistance.</p><p><strong>Conclusion: </strong>Epilepsy is a frequent finding in KS, but the underlying pathogenetic mechanism and specific features remain elusive.</p>\",\"PeriodicalId\":19421,\"journal\":{\"name\":\"Neuropediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2023-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neuropediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0043-1775977\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/10/6 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuropediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/s-0043-1775977","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/10/6 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Background: Kleefstra syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. Autism spectrum disorder, severe language impairment, and sleep disorders have also been described. The syndrome can be either caused by a microdeletion in 9q34.3 or by pathogenic variants in the euchromatin histone methyltransferase 1 gene (EHMT1, *607001). Although epilepsy has been reported in 20 to 30% of subjects, a detailed description of epileptic features and underlying etiology is still lacking. The purpose of this study is to investigate epilepsy features in a cohort of epileptic patients with KS.
Methods: This multicenter study investigated eight patients with KS and epilepsy. Our findings were compared with literature data.
Results: We included five patients with 9q or 9q34.33 deletions, a subject with a complex translocation involving EHMT1, and two with pathogenic EHMT1 variants. All patients presented with moderate to severe developmental delay, language impairment, microcephaly, and infantile hypotonia. Although the epileptic manifestations were heterogeneous, most patients experienced focal seizures. The seizure frequency differs according to the age of epilepsy onset, with patients with early-onset epilepsy (before 36 months of age) presenting more frequent seizures. An overtime reduction in seizure frequency, as well as in antiseizure drug number, was observed in all patients. Developmental delay degree did not correlate with seizure onset and frequency or drug resistance.
Conclusion: Epilepsy is a frequent finding in KS, but the underlying pathogenetic mechanism and specific features remain elusive.
期刊介绍:
For key insights into today''s practice of pediatric neurology, Neuropediatrics is the worldwide journal of choice. Original articles, case reports and panel discussions are the distinctive features of a journal that always keeps abreast of current developments and trends - the reason it has developed into an internationally recognized forum for specialists throughout the world.
Pediatricians, neurologists, neurosurgeons, and neurobiologists will find it essential reading.