# Ohtahara syndrome

> neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures

**Wikidata**: [Q649602](https://www.wikidata.org/wiki/Q649602)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Ohtahara_syndrome)  
**Source**: https://4ort.xyz/entity/ohtahara-syndrome


## References

1. [Source](http://www.nanbyou.or.jp/entry/4381)
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
7. X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11.
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. Monarch Disease Ontology release 2018-06-29