Details of Disease | DrugMAP

General Information of Disease (ID: DISDMEN3)

Disease Name	Developmental and epileptic encephalopathy, 12
Synonyms	DEE12; developmental and epileptic encephalopathy, 12; EIEE12; PLCB1 early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, 12; early infantile epileptic encephalopathy 12; early infantile epileptic encephalopathy caused by mutation in PLCB1; epileptic encephalopathy, early infantile, type 12; developmental and epileptic encephalopathy 12
Definition	An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.
Disease Hierarchy	DISF2TRU: Malignant migrating partial seizures of infancy DISLIAU9: West syndrome DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy DISZOCA3: Epileptic encephalopathy DISDMEN3: Developmental and epileptic encephalopathy, 12
Disease Identifiers	MONDO ID MONDO_0013389 UMLS CUI C3150988 OMIM ID 613722 MedGen ID 462338

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PLCB1	TTLPGU7	Strong	Autosomal recessive	[1]
PLCB1	TTLPGU7	Strong	Biomarker	[1]
PNKP	TTHR3IE	Strong	CausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLCB1	OT9HYT7A	Strong	Autosomal recessive	[1]
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References

1	Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. Brain. 2010 Oct;133(10):2964-70. doi: 10.1093/brain/awq238. Epub 2010 Sep 9.
2	Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet. 2015 Mar 5;96(3):474-9. doi: 10.1016/j.ajhg.2015.01.005. Epub 2015 Feb 26.