Details of Disease | DrugMAP

General Information of Disease (ID: DISMVLYC)

Disease Name	Developmental and epileptic encephalopathy, 8
Synonyms	hyperekplexia and epilepsy; EIEE8; developmental and epileptic encephalopathy 8; hyperekplexia-epilepsy syndrome; epileptic encephalopathy, early infantile, 8; DEE8; early infantile epileptic encephalopathy 8; epileptic encephalopathy, early infantile, type 8
Disease Hierarchy	DISI3QE9: X-linked complex neurodevelopmental disorder DIS9YXFE: Hereditary hyperekplexia DISIM2J4: X-linked intellectual disability-epilepsy syndrome DISZOCA3: Epileptic encephalopathy DISMVLYC: Developmental and epileptic encephalopathy, 8
Disease Identifiers	MONDO ID MONDO_0010375 MESH ID C564474 UMLS CUI C1845102 OMIM ID 300607 MedGen ID 375581 Orphanet ID 163985

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARHGEF9	OTB1FLIW	Strong	X-linked	[1]
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References

1	The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. J Neurosci. 2004 Jun 23;24(25):5816-26. doi: 10.1523/JNEUROSCI.1184-04.2004.