Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/128200
http://purl.bioontology.org/ontology/OMIM/128200
Preferred Name

EPISODIC KINESIGENIC DYSKINESIA 1
Synonyms
DYSTONIA, FAMILIAL PAROXYSMAL
PAROXYSMAL KINESIGENIC DYSKINESIA
PKD
PKC
DYSTONIA 10
EKD1
DYT10
PAROXYSMAL KINESIGENIC CHOREOATHETOSIS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DYSTONIA, FAMILIAL PAROXYSMAL
PAROXYSMAL KINESIGENIC DYSKINESIA
PKD
PKC
DYSTONIA 10
EKD1
DYT10
PAROXYSMAL KINESIGENIC CHOREOATHETOSIS
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prefLabel
EPISODIC KINESIGENIC DYSKINESIA 1
Gene Symbol
BFIC2
PKC
DYT10
EKD1
ICCA
BFIS2
PRRT2
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Scope Statement
Prevalence of 1 in 150,000 [MISCELLANEOUS]
Favorable response to anticonvulsants [MISCELLANEOUS]
Caused by mutation in the proline-rich transmembrane protein 2 gene (PRRT2, 614386.0001) [MOLECULAR BASIS]
Symptoms precipitated by sudden movements [MISCELLANEOUS]
Symptoms often decrease or remit with age [MISCELLANEOUS]
Onset in childhood or adolescence (median age of 9 years) [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Increased male-to-female ratio (3-4 to 1) [MISCELLANEOUS]
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type
Has manifestation
tui
T047
Gene Locus
16p11.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
128200
Semantic type UMLS property
Has inheritance type
cui
C4552000
C1868682
Moved from
224600
OMIM Entry Type
3
OMIM MimType Value
pound
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