Details of Disease | DrugMAP

General Information of Disease (ID: DIS9WKFH)

Disease Name	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Definition	A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.
Disease Hierarchy	DISTEZKR: Infantile epilepsy syndrome DIS80GDF: Monogenic epilepsy DIS9WKFH: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Disease Identifiers	MONDO ID MONDO_0018314 UMLS CUI C4750853 MedGen ID 1654958 Orphanet ID 391316 SNOMED CT ID 773421009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TNK2	TTIET93	Supportive	Autosomal recessive	[1]
TNK2	TTIET93	Definitive	GermlineCausalMutation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TNK2	OTRGG0T8	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy. Ann Neurol. 2013 Sep;74(3):496-501. doi: 10.1002/ana.23934. Epub 2013 Sep 4.