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Term:
Parent Terms Term With Siblings Child Terms
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
benign familial infantile epilepsy  
Congenital Deafness and Familial Myoclonic Epilepsy 
congenital disorder of glycosylation type IIm  
Dravet syndrome  
An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (DO)
early infantile epileptic encephalopathy 1  
early infantile epileptic encephalopathy 11  
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Early Infantile Epileptic Encephalopathy, 64  
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early myoclonic encephalopathy +   
Familial Adult Myoclonic Epilepsy, 1  
Familial Adult Myoclonic Epilepsy, 2  
Familial Adult Myoclonic Epilepsy, 3 
Familial Adult Myoclonic Epilepsy, 5  
Familial Adult Myoclonic Epilepsy, 6  
Familial Adult Myoclonic Epilepsy, 7  
familial encephalopathy with neuroserpin inclusion bodies  
Feigenbaum Bergeron Richardson Syndrome 
Hydroxylysinuria 
juvenile myoclonic epilepsy +   
microcephaly, seizures, and developmental delay  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonic Epilepsy, Familial Infantile  
Myoclonic Epilepsy, Hartung Type 
Myoclonic-Atonic Epilepsy  
Photoparoxysmal Response 3 
progressive myoclonus epilepsy +   
Spastic Paraplegia with Myoclonic Epilepsy 
West syndrome +   

Synonyms
Exact Synonyms: Dravet syndromes ;   EIEE6 ;   SMEI ;   early infantile epileptic encephalopathy 6 ;   severe myoclonic epilepsy in infancy ;   severe myoclonic epilepsy of infancy
Primary IDs: OMIM:607208
Alternate IDs: DOID:0060171 ;   RDO:9002864
Xrefs: GARD:10430 ;   ORDO:33069
Definition Sources: https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/11359211

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.