Toggle Main Menu Toggle Search

Open Access padlockePrints

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Lookup NU author(s): Dr Rhys ThomasORCiD

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

© 2015 American Academy of Neurology. Objective: To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2. Methods: We analyzed the medical history, MRI, and video-EEG recordings of 9 individuals with de novo CHD2 mutations and one with a de novo 15q26 deletion encompassing CHD2. Results: Seizures began at a mean of 26 months (12-42) with myoclonic seizures in all 10 cases. Seven exhibited exquisite clinical photosensitivity; 6 self-induced with the television. Absence seizures occurred in 9 patients including typical (4), atypical (2), and absence seizures with eyelid myoclonias (4). Generalized tonic-clonic seizures occurred in 9 of 10 cases with a mean onset of 5.8 years. Convulsive and nonconvulsive status epilepticus were later features (6/10, mean onset 9 years). Tonic (40%) and atonic (30%) seizures also occurred. In 3 cases, an unusual seizure type, the atonic-myoclonic-absence was captured on video. A phenotypic spectrum was identified with 7 cases having moderate to severe intellectual disability and refractory seizures including tonic attacks. Their mean age at onset was 23 months. Three cases had a later age at onset (34 months) with relative preservation of intellect and an initial response to antiepileptic medication. Conclusion: The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy, marked clinical photosensitivity, atonic-myoclonic-absence, and intellectual disability ranging from mild to severe. Recognition of this genetic entity will permit earlier diagnosis and enable the development of targeted therapies.


Publication metadata

Author(s): Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2015

Volume: 84

Issue: 9

Pages: 951-958

Print publication date: 03/03/2015

Online publication date: 11/02/2015

Acceptance date: 01/01/1900

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams and Wilkins

URL: .http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000001305

DOI: 10.1212/WNL.0000000000001305

PubMed id: 25672921


Altmetrics

Altmetrics provided by Altmetric


Share