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A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls.

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第一作者： I,Cursio

第一单位： Pediatric Neurology and Epilepsy Unit, Department of Pediatrics, ARNAS Brotzu, Cagliari, Italy.;Department of Child Neuropsychiatry, Children's Hospital "G. Salesi," Ospedali Riuniti, Ancona, Italy.

作者： I,Cursio ^[1] ; N,Ronzano ^[2] ; M,Asunis ^[2] ; M S,Dettori ^[2] ; S,Cossu ^[2] ; S,Murru ^[3] ; M,Cau ^[4] ; F,Incani ^[3] ; D,Mei ^[5] ; C,Bianchini ^[5] ; M,Scioni ^[6] ; D,Pruna ^[2]

作者单位： Pediatric Neurology and Epilepsy Unit, Department of Pediatrics, ARNAS Brotzu, Cagliari, Italy.;Department of Child Neuropsychiatry, Children's Hospital "G. Salesi," Ospedali Riuniti, Ancona, Italy. ^[1] Pediatric Neurology and Epilepsy Unit, Department of Pediatrics, ARNAS Brotzu, Cagliari, Italy. ^[2] Laboratory of Genetics and Genomics, ARNAS Brotzu, Cagliari, Italy. ^[3] Laboratory of Genetics and Genomics, ARNAS Brotzu, Cagliari, Italy.;Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy. ^[4] Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy. ^[5] Child and Adolescent Neuropsychiatry, Carbonia, Italy. ^[6]

关键词 Developmental and/or Epileptic Encephalopathy with spike-wave activation in sleep Genetic testing Developmental disorders Self-Limited Epilepsy with Centrotemporal Spikes Self-Limited Focal Epilepsies of Childhood

DOI 10.1016/j.ebr.2022.100546

PMID 35637976

发布时间 2022-07-16

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