Details of Disease | DrugMAP

General Information of Disease (ID: DISZRFFY)

Disease Name	Developmental and epileptic encephalopathy, 34
Synonyms	SLC12A5 early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, type 34; epileptic encephalopathy, early infantile, 34; EIEE34; developmental and epileptic encephalopathy 34; EIEE34; DEE34; early infantile epileptic encephalopathy caused by mutation in SLC12A5; epileptic encephalopathy, early infantile, 34
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.
Disease Hierarchy	DISF2TRU: Malignant migrating partial seizures of infancy DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy DISZOCA3: Epileptic encephalopathy DISZRFFY: Developmental and epileptic encephalopathy, 34
Disease Identifiers	MONDO ID MONDO_0014718 UMLS CUI C4225257 OMIM ID 616645 MedGen ID 899149

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
SLC12A5	TTH6UZY	Strong	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC12A5	DTD62VB	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC12A5	OTBA2M8Y	Strong	Autosomal recessive	[2]
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References

1	Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.Sci Rep. 2016 Jul 20;6:30072. doi: 10.1038/srep30072.
2	Disruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition. Neuron. 2001 May;30(2):515-24. doi: 10.1016/s0896-6273(01)00297-5.