Details of Disease | DrugMAP

General Information of Disease (ID: DIST9Z03)

Disease Name	Generalized epilepsy with febrile seizures plus, type 10
Synonyms	Gefs+, Type 10; GEFSP10; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10
Disease Hierarchy	DISJE0UU: Generalized epilepsy with febrile seizures plus DIST9Z03: Generalized epilepsy with febrile seizures plus, type 10
Disease Identifiers	MONDO ID MONDO_0032777 UMLS CUI C5193120 OMIM ID 618482 MedGen ID 1676426

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
HCN1	TTNB6UQ	Strong	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
HCN1	OTVOWKQ7	Strong	Autosomal dominant	[1]
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References

1	HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.