Details of Disease | DrugMAP

General Information of Disease (ID: DISQN0K9)

Disease Name	Hemiplegic migraine-developmental and epileptic encephalopathy spectrum
Definition	A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.
Disease Hierarchy	DISYVMKL: Familial hemiplegic migraine DISZOCA3: Epileptic encephalopathy DISQN0K9: Hemiplegic migraine-developmental and epileptic encephalopathy spectrum

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
ATP1A2	TT5B6HJ	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP1A2	OTCF8OWW	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.