Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
class Information
definition_citation
Orphanet
has_age_of_onset
Childhood
has_dbxref
- ICD-10:E72.1
- ICD-11:8A61.2Y
- OMIM:245570
- UMLS:C4749281
has_inheritance
Autosomal dominant
notation
present_in
Worldwide AND has_point_prevalence_range : Unknown
class Relations
Subclass of
Related from
disease-causing germline mutation(s) in