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 language | English |
|---|---|
| Pages (from-to) | 8-10 |
| Number of pages | 3 |
| Journal | Seizure |
| Volume | 57 |
| DOIs | |
| Publication status | Published - Apr 2018 |
Fingerprint
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
CHD2-epilepsy : Polygraphic documentation of self-induced seizures due to fixation-off sensitivity. / Caputo, Davide; Trivisano, Marina; Vigevano, Federico; Fusco, Lucia.
In: Seizure, Vol. 57, 04.2018, p. 8-10.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - CHD2-epilepsy
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 -