Reference : CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
Scientific journals : Article
Life sciences : Genetics & genetic processes
Systems Biomedicine
http://hdl.handle.net/10993/27690
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
English
Thomas, Rhys H. []
Zhang, Lin Mei []
Carvill, Gemma L. []
Archer, John S. []
Heavin, Sinéad B. []
Mandelstam, Simone A. []
Craiu, Dana []
Berkovic, Samuel F. []
Gill, Deepak S. []
Mefford, Heather C. []
Scheffer, Ingrid E. []
Paalotie, Aarno []
Lehesjoki, Anna-Elina []
Koeleman, Bobby []
Marini, Carla []
Depienne, Christel []
Pal, Deb []
Hoffman-Zacharska, Dorota []
Leguern, Eric []
Zara, Federico []
Rosenow, Felix []
Caglayan, Hande []
Hjalgrim, Helle []
Muhle, Hiltrud []
Lerche, Holger []
Helbig, Ingo []
Jähn, Johanna []
Lemke, Johannes []
Serratosa, Jose M. []
Selmer, Katja []
Klein, Karl Martin []
Sterbova, Katalin []
Pendziwiat, Manuela []
Barisic, Nina []
Gormley, Padhraig []
Striano, Pasquale []
May, Patrick mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
De Jonghe, Peter []
Guerrini, Renzo []
Møller, Rikke S. []
Krause, Roland mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Balling, Rudi mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Sisodiya, Sanjay []
von Spiczak, Sarah []
Weckhuysen, Sarah []
Baulac, Stéphanie []
Suls, Arvid []
Djemie, Tania []
Stephani, Ulrich []
Komarek, Vladimir []
Weber, Yvonne []
3-Mar-2015
Neurology
Lippincott Williams & Wilkins
84
9
951-958
Yes (verified by ORBilu)
International
0028-3878
1526-632X
Hagerstown
MD
[en] Epilepsy ; CHD2 ; Genetics
[en] 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.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) ; Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group)
http://hdl.handle.net/10993/27690
10.1212/WNL.0000000000001305
http://www.neurology.org/content/84/9/951.short

File(s) associated to this reference

Fulltext file(s):

FileCommentaryVersionSizeAccess
Limited access
NEUROLOGY2014577221.pdfPublisher postprint887.37 kBRequest a copy

Bookmark and Share SFX Query

All documents in ORBilu are protected by a user license.