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CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
Open accessAbstract
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.
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“CHD2, encoding a chromodomain helicase binding protein 108 , causes photosensitive myoclonic DEEs including epilepsy with eyelid myoclonia and epilepsy with myoclonic-atonic seizures 137 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [137]
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CHROMO domain readers: A rainbow of opportunities
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Metadata
- Authors
- Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., Scheffer, I. E., Paalotie, A., Lehesjoki, A.-E., Koeleman, B., Marini, C., Depienne, C., Craiu, D., Pal, D., Hoffman-Zacharska, D., Leguern, E., Zara, F., Rosenow, F., Caglayan, H., Hjalgrim, H., Muhle, H., Lerche, H., Helbig, I., Jähn, J., Lemke, J., Serratosa, J. M., Selmer, K., Klein, K. M., Sterbova, K., Pendziwiat, M., Barisic, N., Gormley, P., Striano, P., May, P., De Jonghe, P., Guerrini, R., Møller, R., Krause, R., Balling, R., Sisodiya, S., von Spiczak, S., Weckhuysen, S., Baulac, S., Suls, A., Djemie, T., Talvik, T., Stephani, U., Komarek, V., & Weber, Y.
- Affiliations
- Royal Children's Hospital (AU)
- ORCID
- Thomas, Rhys H.
- Carvill, Gemma L.
- Archer, John S.
- Mandelstam, Simone A.
- Berkovic, Samuel F.
- Gill, Deepak S.
- Mefford, Heather C.
- Scheffer, Ingrid E.
- Lehesjoki, Anna-Elina
- Koeleman, Bobby
- Marini, Carla
- Depienne, Christel
- Pal, Deb
- Zara, Federico
- Rosenow, Felix
- Hjalgrim, Helle
- Lerche, Holger
- Helbig, Ingo
- Lemke, Johannes
- Selmer, Kaja
- Klein, Karl Martin
- Pendziwiat, Manuela
- Gormley, Padhraig
- Striano, Pasquale
- May, Patrick
- Guerrini, Renzo
- Møller, Rikke
- Krause, Roland
- Balling, Rudi
- Sisodiya, Sanjay
- Weckhuysen, Sarah
- Baulac, Stéphanie
- Suls, Arvid
- Stephani, Ulrich
- Weber, Yvonne
- Venue
- Neurology
- Published
- 2015-03-03
- Volume
- 84
- Issue
- 9
- Pages
- 951-958
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC4351660
- OpenAlex
- W2081757946
- Cited by
- 100
- References
- 24
- Citations by year
- 2026: 4 · 2025: 10 · 2024: 14 · 2023: 8 · 2022: 14 · 2021: 8 · 2020: 11 · 2019: 5 · 2018: 6 · 2017: 6 · 2016: 8 · 2015: 6
- FWCI
- 7.03
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- Open Repository and Bibliography (University of Luxembourg) (submittedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (K99NS089858)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pharmacological Effects and Toxicity Studies
- Keywords
- CHD2, myoclonic encephalopathy, de novo mutations, self-induced seizures, absence seizures, status epilepticus, intellectual disability, phenotypic spectrum, refractory seizures, seizure onset age
- MeSH terms
- Adolescent, Adult, Child, DNA-Binding Proteins, Epilepsies, Myoclonic, Female, Humans, Male, Photic Stimulation, Seizures, Cohort Studies, Young Adult
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