Details of Disease | DrugMAP

General Information of Disease (ID: DISZDF43)

Disease Name	Epilepsy, progressive myoclonic, 1B
Synonyms	EPM1B; progressive myoclonic epilepsy caused by mutation in PRICKLE1; epilepsy, progressive myoclonic, 1B; PRICKLE1 progressive myoclonic epilepsy; epilepsy, progressive myoclonic, type 1B; epilepsy, progressive myoclonic 1B
Definition	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.
Disease Hierarchy	DISAMCNS: Progressive myoclonus epilepsy DISZDF43: Epilepsy, progressive myoclonic, 1B
Disease Identifiers	MONDO ID MONDO_0012904 MESH ID C580388 UMLS CUI C2676254 OMIM ID 612437 MedGen ID 394003 SNOMED CT ID 702326000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCTD7	OTRU3EOK	Strong	Genetic Variation	[1]
PRICKLE1	OT9HHEM9	Strong	Autosomal recessive	[2]
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References

1	Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.Epilepsia. 2014 Sep;55(9):e106-11. doi: 10.1111/epi.12730. Epub 2014 Jul 24.
2	A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83(5):572-81. doi: 10.1016/j.ajhg.2008.10.003. Epub 2008 Oct 30.