Details of Disease | DrugMAP

General Information of Disease (ID: DIS65CHB)

Disease Name	Episodic kinesigenic dyskinesia
Synonyms	EKD; familial paroxysmal kinesigenic dyskinesia; paroxysmal kinesigenic choreathetosis; familial PKD
Definition	Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.
Disease Hierarchy	DIS5XVXE: Paroxysmal dyskinesia DIS65CHB: Episodic kinesigenic dyskinesia
Disease Identifiers	MONDO ID MONDO_0044202 MESH ID C537180 UMLS CUI C1868682 MedGen ID 358268 Orphanet ID 98809 SNOMED CT ID 609221008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRKD1	TTSLUMT	moderate	Genetic Variation	[1]
KCNA1	TTS3DIK	Strong	GermlineCausalMutation	[2]
KCNA5	TTW0CMT	Definitive	Genetic Variation	[3]
KCNA6	TTJ2W69	Definitive	Genetic Variation	[3]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRRT2	OTCJUBDO	Strong	Genetic Variation	[4]
SGCE	OT9F17JB	Definitive	Biomarker	[5]
STX1B	OTSW59X0	Definitive	Biomarker	[6]
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References

1	Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.J Hum Genet. 2012 May;57(5):338-41. doi: 10.1038/jhg.2012.23. Epub 2012 Mar 8.
2	Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene. Hum Mol Genet. 2018 Feb 15;27(4):625-637. doi: 10.1093/hmg/ddx430.
3	Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.Ann Neurol. 2001 Apr;49(4):486-92.
4	PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia.Biochem Biophys Res Commun. 2020 Feb 12;522(3):553-559. doi: 10.1016/j.bbrc.2019.11.025. Epub 2019 Nov 27.
5	Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.Dev Med Child Neurol. 2012 Jul;54(7):618-23. doi: 10.1111/j.1469-8749.2012.04287.x. Epub 2012 Apr 19.
6	A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.Epilepsia. 2018 Aug;59(8):1621-1630. doi: 10.1111/epi.14511. Epub 2018 Jul 15.