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 |
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Pages (from-to) | 8-10 |
Number of pages | 3 |
Journal | Seizure |
Volume | 57 |
DOIs | |
Publication status | Published - Apr 2018 |
Keywords
- Brain/physiopathology
- Child
- DNA-Binding Proteins/genetics
- Electroencephalography
- Fixation, Ocular
- Humans
- Male
- Mutation
- Myoclonic Epilepsy, Juvenile/diagnosis
- Phenotype
- Seizures/diagnosis
- Visual Perception