Epileptic encephalopathy, childhood-onset

Definition:

Epileptic encephalopathy, childhood-onset (EEOC) is CHD2-related neurodevelopmental disorder, inherited in an autosomal dominant manner. It is characterized by refractory seizures and cognitive slowing or regression associated with frequent ongoing epileptiform activity. Intellectual disability and/or autism spectrum disorders are common.

References:

[1]. Andrea Klunder Petersen, et al. The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. Am J Med Genet A. 2018 Jul;176(7):1667-1669. [Content Brief]

[2]. Arvid Suls, et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet. 2013 Nov 7;93(5):967-75. [Content Brief]

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