CHD2-epilepsy: Polygraphic documentation of self-induced seizures due to fixation-off sensitivity

Research output: Contribution to journalArticle

Abstract

CHD2 gene has been described in association with different types of childhood myoclonic epilepsy and is emerging as a gene involved in photosensitivity alone or combined with epilepsy. Recent studies suggest that CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity and in particular with self-induced seizures. We report the case of a child with CHD2 mutation and mild developmental impairment that since the age of 3 years started with myoclonic seizures apparently well responding to antiepileptic drugs and that subsequently developed intractable self-induced seizures. Through an accurate Video-EEG polygraphic analysis, we demonstrated that seizures are related to an abnormal increase of epileptiform activity after eye-closure or loss of fixation as observed in the Fixation-Off Sensitivity (FOS) phenomenon. In conclusion our study adds relevant features of the CHD2-epilepsy phenotype and confirms that CHD2 mutations produce a distinctive form of myoclonic epilepsy with visual-sensitive seizures.

Original languageEnglish
Pages (from-to)8-10
Number of pages3
JournalSeizure
Volume57
DOIs
Publication statusPublished - Apr 2018

Fingerprint

Documentation
Epilepsy
Seizures
Myoclonic Epilepsy
Phenotype
Generalized Epilepsy
Mutation
Intellectual Disability
Anticonvulsants
Genes
Electroencephalography

Keywords

  • Brain/physiopathology
  • Child
  • DNA-Binding Proteins/genetics
  • Electroencephalography
  • Fixation, Ocular
  • Humans
  • Male
  • Mutation
  • Myoclonic Epilepsy, Juvenile/diagnosis
  • Phenotype
  • Seizures/diagnosis
  • Visual Perception

Cite this

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title = "CHD2-epilepsy: Polygraphic documentation of self-induced seizures due to fixation-off sensitivity",
abstract = "CHD2 gene has been described in association with different types of childhood myoclonic epilepsy and is emerging as a gene involved in photosensitivity alone or combined with epilepsy. Recent studies suggest that CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity and in particular with self-induced seizures. We report the case of a child with CHD2 mutation and mild developmental impairment that since the age of 3 years started with myoclonic seizures apparently well responding to antiepileptic drugs and that subsequently developed intractable self-induced seizures. Through an accurate Video-EEG polygraphic analysis, we demonstrated that seizures are related to an abnormal increase of epileptiform activity after eye-closure or loss of fixation as observed in the Fixation-Off Sensitivity (FOS) phenomenon. In conclusion our study adds relevant features of the CHD2-epilepsy phenotype and confirms that CHD2 mutations produce a distinctive form of myoclonic epilepsy with visual-sensitive seizures.",
keywords = "Brain/physiopathology, Child, DNA-Binding Proteins/genetics, Electroencephalography, Fixation, Ocular, Humans, Male, Mutation, Myoclonic Epilepsy, Juvenile/diagnosis, Phenotype, Seizures/diagnosis, Visual Perception",
author = "Davide Caputo and Marina Trivisano and Federico Vigevano and Lucia Fusco",
note = "Copyright {\circledC} 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.",
year = "2018",
month = "4",
doi = "10.1016/j.seizure.2018.02.010",
language = "English",
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TY - JOUR

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T2 - Polygraphic documentation of self-induced seizures due to fixation-off sensitivity

AU - Caputo, Davide

AU - Trivisano, Marina

AU - Vigevano, Federico

AU - Fusco, Lucia

N1 - Copyright © 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

PY - 2018/4

Y1 - 2018/4

N2 - CHD2 gene has been described in association with different types of childhood myoclonic epilepsy and is emerging as a gene involved in photosensitivity alone or combined with epilepsy. Recent studies suggest that CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity and in particular with self-induced seizures. We report the case of a child with CHD2 mutation and mild developmental impairment that since the age of 3 years started with myoclonic seizures apparently well responding to antiepileptic drugs and that subsequently developed intractable self-induced seizures. Through an accurate Video-EEG polygraphic analysis, we demonstrated that seizures are related to an abnormal increase of epileptiform activity after eye-closure or loss of fixation as observed in the Fixation-Off Sensitivity (FOS) phenomenon. In conclusion our study adds relevant features of the CHD2-epilepsy phenotype and confirms that CHD2 mutations produce a distinctive form of myoclonic epilepsy with visual-sensitive seizures.

AB - CHD2 gene has been described in association with different types of childhood myoclonic epilepsy and is emerging as a gene involved in photosensitivity alone or combined with epilepsy. Recent studies suggest that CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity and in particular with self-induced seizures. We report the case of a child with CHD2 mutation and mild developmental impairment that since the age of 3 years started with myoclonic seizures apparently well responding to antiepileptic drugs and that subsequently developed intractable self-induced seizures. Through an accurate Video-EEG polygraphic analysis, we demonstrated that seizures are related to an abnormal increase of epileptiform activity after eye-closure or loss of fixation as observed in the Fixation-Off Sensitivity (FOS) phenomenon. In conclusion our study adds relevant features of the CHD2-epilepsy phenotype and confirms that CHD2 mutations produce a distinctive form of myoclonic epilepsy with visual-sensitive seizures.

KW - Brain/physiopathology

KW - Child

KW - DNA-Binding Proteins/genetics

KW - Electroencephalography

KW - Fixation, Ocular

KW - Humans

KW - Male

KW - Mutation

KW - Myoclonic Epilepsy, Juvenile/diagnosis

KW - Phenotype

KW - Seizures/diagnosis

KW - Visual Perception

U2 - 10.1016/j.seizure.2018.02.010

DO - 10.1016/j.seizure.2018.02.010

M3 - Article

C2 - 29529558

VL - 57

SP - 8

EP - 10

JO - Seizure : the journal of the British Epilepsy Association

JF - Seizure : the journal of the British Epilepsy Association

SN - 1059-1311

ER -