Details of Disease | DrugMAP

General Information of Disease (ID: DISWM45T)

Disease Name	Rolandic epilepsy-speech dyspraxia syndrome
Definition	A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.
Disease Hierarchy	DISYKM6G: Childhood-onset epilepsy syndrome DISWM45T: Rolandic epilepsy-speech dyspraxia syndrome
Disease Identifiers	MONDO ID MONDO_0015587 UMLS CUI C4707308 MedGen ID 1633042 Orphanet ID 163721 SNOMED CT ID 765093009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRIN2A	TTKJEMQ	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIN2A	OTTP0KN8	Supportive	Autosomal dominant	[1]
SRPX2	OT6A63TX	Supportive	Autosomal dominant	[2]
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References

1	GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet. 2013 Sep;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11.
2	SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet. 2006 Apr 1;15(7):1195-207. doi: 10.1093/hmg/ddl035. Epub 2006 Feb 23.