Clinical and Electroencephalographic Characteristics of Infantile-Onset Epilepsies Caused by Genetic Mutations

Yun Jung Hur, Sookyong Koh, John J Millichap, Srishti Nangia, Lawrence J Jennings, Douglas R. Nordli*

*Corresponding author for this work

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)172-177.e1
JournalJournal of Pediatrics
Volume184
DOIs
StatePublished - May 1 2017

Fingerprint

Electroencephalography
Epilepsy
Mutation
Genetic Testing
Encephalomalacia
Channelopathies
Malformations of Cortical Development
Sirolimus
Brain Neoplasms
Chromosome Aberrations
Seizures
Magnetic Resonance Imaging
Recurrence

Keywords

  • genetic epilepsy
  • infantile epilepsy
  • neonatal seizures

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

@article{2cf1fd69c7f549528a055b61f394566d,
title = "Clinical and Electroencephalographic Characteristics of Infantile-Onset Epilepsies Caused by Genetic Mutations",
abstract = "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.",
keywords = "genetic epilepsy, infantile epilepsy, neonatal seizures",
author = "Hur, {Yun Jung} and Sookyong Koh and Millichap, {John J} and Srishti Nangia and Jennings, {Lawrence J} and Nordli, {Douglas R.}",
year = "2017",
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Clinical and Electroencephalographic Characteristics of Infantile-Onset Epilepsies Caused by Genetic Mutations. / Hur, Yun Jung; Koh, Sookyong; Millichap, John J; Nangia, Srishti; Jennings, Lawrence J; Nordli, Douglas R.

In: Journal of Pediatrics, Vol. 184, 01.05.2017, p. 172-177.e1.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Clinical and Electroencephalographic Characteristics of Infantile-Onset Epilepsies Caused by Genetic Mutations

AU - Hur, Yun Jung

AU - Koh, Sookyong

AU - Millichap, John J

AU - Nangia, Srishti

AU - Jennings, Lawrence J

AU - Nordli, Douglas R.

PY - 2017/5/1

Y1 - 2017/5/1

N2 - 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.

AB - 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.

KW - genetic epilepsy

KW - infantile epilepsy

KW - neonatal seizures

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