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Clinical and Electroencephalographic Characteristics of Infantile-Onset Epilepsies Caused by Genetic Mutations.
Hur, Yun Jung; Koh, Sookyong; Millichap, John; Nangia, Srishti; Jennings, Lawrence J; Nordli, Douglas R.
Afiliação
  • Hur YJ; Epilepsy Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Pediatrics, Haeundae Paik Hospital, Inje University College of Medicine, Pusan, Republic of Korea.
  • Koh S; Epilepsy Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Pediatrics, Children's Healthcare of Atlanta, Emory University, Atlanta, GA.
  • Millichap J; Epilepsy Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL.
  • Nangia S; Epilepsy Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL.
  • Jennings LJ; Epilepsy Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL.
  • Nordli DR; Epilepsy Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL; Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA. Electronic address: dnordli@chla.usc.edu.
J Pediatr ; 184: 172-177.e1, 2017 05.
Article em En | MEDLINE | ID: mdl-28410084
OBJECTIVES: To determine whether certain characteristic electroencephalography (EEG) features are indicative of a genetic cause in early-life epilepsy. STUDY DESIGN: We enrolled a total of 100 patients with infantile-onset (<3 years) epilepsy due to known genetic cause (n = 50) and nongenetic cause (acquired, structural, or unknown, n = 50). The genetic group was classified into synaptopathies, channelopathies, mTOR (mammalian target of rapamycin)-opathies, and chromosomal abnormalities. The nongenetic group included epilepsy of unknown cause and structural abnormalities such as brain tumor, focal cortical dysplasia and encephalomalacia. The clinical features, magnetic resonance imaging, and video EEG obtained before 3 years of age and again at follow-up were reviewed. Specifically, the background rhythms and patterns of interictal epileptiform discharges were analyzed to define the EEG characteristics. RESULTS: The genetic group was more likely to have seizure recurrence beyond infancy and significant developmental delay (P <.01). The genetic and nongenetic groups showed different EEG patterns in the initial EEGs that persisted in follow-up EEGs. Diffuse slowing with pleomorphic focal/multifocal epileptiform discharges were present more often in the genetic (86%) compared with the nongenetic group (20%) in the initial EEGs (P <.01). The last available follow-up EEG features were similar (81% in genetic versus 17% in nongenetic) to the EEG performed prior to 3 years of age. CONCLUSIONS: Our findings suggest a simple guide for genetic screening in children with early-onset epilepsy. Genetic testing may be indicated and useful in infants with delayed development, no obvious cause, and significant EEG background slowing with pleomorphic focal or multifocal epileptiform discharges.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Eletroencefalografia / Epilepsia / Mutação Tipo de estudo: Observational_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 2017 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Eletroencefalografia / Epilepsia / Mutação Tipo de estudo: Observational_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 2017 Tipo de documento: Article País de publicação: Estados Unidos